Bazex-Dupre-Christol Syndrome

Mendelian MONDO:0010535 Pathograph 7 Skin disorder Hereditary cancer-predisposing syndrome

Bazex-Dupre-Christol syndrome is an ultra-rare X-linked dominant genodermatosis characterized by congenital hypotrichosis and other hair-shaft abnormalities, follicular atrophoderma, milia, hypohidrosis, and predisposition to early-onset and often multiple basal cell carcinomas. Current genetic evidence supports noncoding Xq26.1 duplications that dysregulate ARHGAP36 as the primary molecular mechanism, while older ACTRT1/ARP-T1 studies provide mechanistic context for ciliary and Hedgehog pathway abnormalities in inherited basal-cell-cancer syndromes.

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1
Definitions
1
Inheritance
4
Pathophys.
17
Phenotypes
7
Pathograph
1
Genes
2
Treatments
11
References
1
Deep Research
📘

Definitions

1
Hereditary genodermatosis with basal-cell-carcinoma predisposition
BDCS is defined by a triad of basal cell carcinoma susceptibility, follicular atrophoderma, and hypotrichosis, with additional milia and sweating abnormalities.
OTHER
Show evidence (2 references)
ORPHA:113 SUPPORT Other
"Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas."
Orphanet provides the concise structured disease definition.
PMID:29808590 SUPPORT Other
"Bazex-Dupré-Christol syndrome is a rare genodermatosis that manifests with the classical triad of basal cell carcinoma, follicular atrophoderma, and hypotrichosis"
A clinical review states the classical triad of BDCS.
👪

Inheritance

1
X-linked dominant inheritance HP:0001423
X-linked dominant inheritance
Show evidence (2 references)
ORPHA:113 SUPPORT Other
"X-linked dominant"
Orphanet records X-linked dominant inheritance.
PMID:8782050 SUPPORT Human Clinical
"Bazex-Dupre-Christol syndrome (BDCS) is an X linked dominant disorder of the hair follicle"
A multigeneration family report supports X-linked dominant inheritance.
⚙

Pathophysiology

4
Xq26.1 duplication-mediated ARHGAP36 dysregulation
Germline noncoding tandem duplications at Xq26.1 alter a regulatory region flanked by ARHGAP36 and IGSF1, most likely causing abnormal ARHGAP36 expression in follicular and basal-cell-tumor-relevant tissues.
ARHGAP36 link
Downstream
Hair follicle compartment dysregulation Altered ARHGAP36-region regulation affects follicular compartments central to BDCS ectodermal findings.
Show evidence (1 reference)
PMID:35986704 SUPPORT Human Clinical
"The Xq26.1 BDCS duplications likely dysregulate ARHGAP36, the flanking centromeric gene."
The copy-number study identifies ARHGAP36 dysregulation as the likely effect of BDCS duplications.
Hair follicle compartment dysregulation
BDCS affects the hair follicle compartment, producing congenital hypotrichosis, hair-shaft abnormalities, follicular atrophoderma, and related ectodermal signs.
hair follicle cell link
hair follicle development link ⚠ ABNORMAL
Downstream
Ciliary and Hedgehog pathway abnormalities in inherited basal-cell-cancer biology Follicular and basal-cell-tumor tissue abnormalities intersect with ciliary and Hedgehog-pathway mechanisms described in inherited BCC studies.
Show evidence (2 references)
PMID:35986704 SUPPORT Human Clinical
"We detected ARHGAP36 expression near the control hair follicular stem cell compartment, and found increased ARHGAP36 levels in hair follicles in telogen, in BCCs and in trichoepitheliomas from patients with BDCS."
Patient tissue data link ARHGAP36 dysregulation to hair follicles and basal-cell tumor tissue.
PMID:8782050 SUPPORT Human Clinical
"Bazex-Dupre-Christol syndrome (BDCS) is an X linked dominant disorder of the hair follicle characterised by follicular atrophoderma, multiple basal cell carcinomas, hypotrichosis, milia, and localised hypohidrosis."
The family report describes BDCS as a hair-follicle disorder with the characteristic ectodermal phenotype.
Ciliary and Hedgehog pathway abnormalities in inherited basal-cell-cancer biology
Mechanistic studies in BDCS-associated and inherited basal-cell-cancer contexts show shortened primary cilia and Hedgehog pathway activation, offering a plausible route from follicular dysregulation to basal-cell carcinoma susceptibility.
cilium organization link ⚠ ABNORMAL smoothened signaling pathway link ↑ INCREASED
Downstream
Follicular ectodermal phenotype and basal cell carcinoma susceptibility Ciliary and Hedgehog-pathway abnormalities support the combined ectodermal and basal-cell-carcinoma phenotype.
Show evidence (2 references)
PMID:33972689 SUPPORT Human Clinical
"Tissue samples from ARP-T1-associated BDCS patients have reduced ciliary length."
Patient tissue and cellular data support ciliary abnormalities in a BDCS-associated inherited basal-cell-cancer context.
PMID:28869610 SUPPORT Human Clinical
"loss of ARP-T1 led to activation of the Hedgehog pathway in individuals with BDCS."
The ACTRT1/eRNA study links an inherited BDCS context to Hedgehog-pathway activation, while the genetic section notes the newer ARHGAP36-region model.
Follicular ectodermal phenotype and basal cell carcinoma susceptibility
The downstream syndrome combines congenital hypotrichosis and hair-shaft abnormalities, milia, hypohidrosis, follicular atrophoderma, and early-onset basal cell carcinomas.
Show evidence (2 references)
PMID:29808590 SUPPORT Other
"the classical triad of basal cell carcinoma, follicular atrophoderma, and hypotrichosis"
A clinical review summarizes the core downstream BDCS phenotype.
PMID:18304168 SUPPORT Human Clinical
"characterized by follicular atrophoderma, multiple milia, congenital hypotrichosis, hypohidrosis and basal cell malformations"
A mother-child report supports the core ectodermal and basal-cell phenotype.
⬡

Pathograph

Use the checkboxes to hide or show graph categories. Hover nodes for evidence and cross-linked metadata.
Pathograph: causal mechanism network for Bazex-Dupre-Christol Syndrome Interactive directed graph showing how pathophysiology mechanisms, phenotypes, genetic factors and variants, experimental models, environmental triggers, and treatments relate through causal and linked edges.
●

Phenotypes

17
Ear 1
Macrotia OCCASIONAL Macrotia (HP:0000400)
Show evidence (1 reference)
ORPHA:113 SUPPORT Other
"HP:0000400 | Macrotia | Occasional (29-5%)"
Orphanet lists macrotia as occasional.
Head and Neck 1
Sparse scalp hair FREQUENT Sparse scalp hair (HP:0002209)
Show evidence (1 reference)
ORPHA:113 SUPPORT Other
"HP:0002209 | Sparse scalp hair | Frequent (79-30%)"
Orphanet lists sparse scalp hair as frequent.
Integument 6
Milia FREQUENT Milia (HP:0001056)
Show evidence (1 reference)
ORPHA:113 SUPPORT Other
"HP:0001056 | Milia | Frequent (79-30%)"
Orphanet lists milia as frequent.
Hypohidrosis Hypohidrosis (HP:0000966)
Show evidence (1 reference)
PMID:18304168 SUPPORT Human Clinical
"Hypohidrosis was observed on his trunk and head."
The mother-child report directly documents hypohidrosis.
Subcutaneous nodule FREQUENT Subcutaneous nodule (HP:0001482)
Show evidence (1 reference)
ORPHA:113 SUPPORT Other
"HP:0001482 | Subcutaneous nodule | Frequent (79-30%)"
Orphanet lists subcutaneous nodule as frequent.
Basal cell carcinoma FREQUENT Basal cell carcinoma (HP:0002671)
Show evidence (2 references)
ORPHA:113 SUPPORT Other
"HP:0002671 | Basal cell carcinoma | Frequent (79-30%)"
Orphanet lists basal cell carcinoma as frequent.
PMID:40015599 SUPPORT Human Clinical
"Bazex-Dupré-Christol syndrome is a rare genetic condition characterised by basal cell carcinomas, follicular atrophoderma and hypotrichosis."
A recent family case report reinforces basal cell carcinoma as a defining feature.
Pili torti FREQUENT Pili torti (HP:0003777)
Show evidence (1 reference)
ORPHA:113 SUPPORT Other
"HP:0003777 | Pili torti | Frequent (79-30%)"
Orphanet lists pili torti as frequent.
Sparse hair FREQUENT Sparse hair (HP:0008070)
Show evidence (1 reference)
ORPHA:113 SUPPORT Other
"HP:0008070 | Sparse hair | Frequent (79-30%)"
Orphanet lists sparse hair as frequent.
Other 9
Abnormal clavicle morphology OCCASIONAL Abnormal clavicle morphology (HP:0000889)
Show evidence (1 reference)
ORPHA:113 SUPPORT Other
"HP:0000889 | Abnormality of the clavicle | Occasional (29-5%)"
Orphanet lists clavicular abnormality as occasional.
Follicular atrophoderma Abnormal perifollicular morphology (HP:0031285)
Show evidence (1 reference)
PMID:8782050 SUPPORT Human Clinical
"Follicular atrophoderma (FA) are follicular funnel shaped depressions, "ice pick marks", seen most commonly on the dorsum of the hands."
The family report defines follicular atrophoderma as follicular depressions; HP:0031285 is used because local and current HPO resolve HP:0007440 to generalized hyperpigmentation, not follicular atrophoderma.
Abnormal finger morphology OCCASIONAL Abnormal finger morphology (HP:0001167)
Show evidence (1 reference)
ORPHA:113 SUPPORT Other
"HP:0001167 | Abnormality of finger | Occasional (29-5%)"
Orphanet lists abnormality of finger as occasional.
Coarse hair VERY_FREQUENT Coarse hair (HP:0002208)
Show evidence (1 reference)
ORPHA:113 SUPPORT Other
"HP:0002208 | Coarse hair | Very frequent (99-80%)"
Orphanet lists coarse hair as very frequent.
Trichorrhexis nodosa FREQUENT Trichorrhexis nodosa (HP:0009886)
Show evidence (1 reference)
ORPHA:113 SUPPORT Other
"HP:0009886 | Trichorrhexis nodosa | Frequent (79-30%)"
Orphanet lists trichorrhexis nodosa as frequent.
Sparse eyebrow FREQUENT Sparse eyebrow (HP:0045075)
Show evidence (1 reference)
ORPHA:113 SUPPORT Other
"HP:0045075 | Sparse eyebrow | Frequent (79-30%)"
Orphanet lists sparse eyebrow as frequent.
Hypoplasia of the ear cartilage OCCASIONAL Hypoplasia of the ear cartilage (HP:0100720)
Show evidence (1 reference)
ORPHA:113 SUPPORT Other
"HP:0100720 | Hypoplasia of the ear cartilage | Occasional (29-5%)"
Orphanet lists ear-cartilage hypoplasia as occasional.
Exostoses OCCASIONAL Exostoses (HP:0100777)
Show evidence (1 reference)
ORPHA:113 SUPPORT Other
"HP:0100777 | Exostoses | Occasional (29-5%)"
Orphanet lists exostoses as occasional.
Sparse or absent eyelashes FREQUENT Sparse or absent eyelashes (HP:0200102)
Show evidence (1 reference)
ORPHA:113 SUPPORT Other
"HP:0200102 | Sparse or absent eyelashes | Frequent (79-30%)"
Orphanet lists sparse or absent eyelashes as frequent.
🧬

Genetic Associations

1
Xq26.1 noncoding duplications dysregulating ARHGAP36 (Noncoding tandem duplications at Xq26.1 most likely dysregulate ARHGAP36)
Show evidence (4 references)
PMID:35986704 SUPPORT Human Clinical
"In eight families with BDCS, we identified overlapping 18-135-kb duplications (six inherited and two de novo) at Xq26.1, flanked by ARHGAP36 and IGSF1."
A multi-family copy-number study identifies recurrent Xq26.1 duplications.
PMID:35986704 SUPPORT Human Clinical
"Noncoding Xq26.1 duplications cause BDCS."
The authors state the current causal model for BDCS.
PMID:35986704 SUPPORT Human Clinical
"The BDCS duplications most likely lead to dysregulation of ARHGAP36."
The study connects the duplications to likely ARHGAP36 dysregulation.
+ 1 more reference
💊

Treatments

2
Lesion-directed surgical removal of basal cell carcinomas
Action: surgical excision MAXO:0000447
Basal cell carcinomas arising in BDCS require standard lesion-directed BCC management, with surgical removal used for most lesions after risk stratification.
Target Phenotypes: Basal cell carcinoma ↗
Show evidence (1 reference)
DOI:10.1111/ddg.15566 SUPPORT Other
"Surgical removal remains the treatment of first choice in most cases."
BCC treatment guidance supports surgical excision for the basal cell carcinoma phenotype targeted in BDCS management.
Genetic counseling
Action: genetic counseling MAXO:0000079
Counseling addresses X-linked dominant inheritance, variable expression, recurrence risk, and the need for follow-up and surveillance in affected families.
Show evidence (2 references)
PMID:29808590 SUPPORT Other
"the opportunity of counseling and following up is missed."
The clinical review specifically highlights missed counseling and follow-up opportunities when diagnosis is delayed.
PMID:8129412 SUPPORT Human Clinical
"further evidence of an X-linked dominant mode of inheritance could be derived from the observation of gender differences"
Inheritance evidence supports counseling for X-linked dominant transmission and variable expression.
{ }

Source YAML

click to show 
name: Bazex-Dupre-Christol Syndrome
creation_date: "2026-05-07T09:05:00Z"
updated_date: "2026-05-07T09:05:00Z"
description: >-
  Bazex-Dupre-Christol syndrome is an ultra-rare X-linked dominant
  genodermatosis characterized by congenital hypotrichosis and other hair-shaft
  abnormalities, follicular atrophoderma, milia, hypohidrosis, and
  predisposition to early-onset and often multiple basal cell carcinomas.
  Current genetic evidence supports noncoding Xq26.1 duplications that
  dysregulate ARHGAP36 as the primary molecular mechanism, while older
  ACTRT1/ARP-T1 studies provide mechanistic context for ciliary and Hedgehog
  pathway abnormalities in inherited basal-cell-cancer syndromes.
category: Mendelian
disease_term:
  preferred_term: Bazex-Dupre-Christol syndrome
  term:
    id: MONDO:0010535
    label: Bazex-Dupre-Christol syndrome
parents:
- Skin disorder
- Hereditary cancer-predisposing syndrome
synonyms:
- BDCS
- Bazex-Dupre-Christol syndrome
- Bazex-Dupré-Christol syndrome
- Bazex syndrome, X-linked dominant
- Follicular atrophoderma and basal cell carcinomas
notes: >-
  ORPHA:113 is the structured Orphanet record for hereditary
  Bazex-Dupre-Christol syndrome and is the source for phenotype coverage in
  this entry. ORPHA:166113 is a distinct adult-onset paraneoplastic
  acrokeratosis of Bazex record; it shares the ambiguous name "Bazex syndrome"
  but was not used for BDCS phenotypes.
external_assertions:
- name: Orphanet Bazex-Dupre-Christol structured disease record
  source: Orphanet
  assertion_type: structured_disease_record
  external_id: ORPHA:113
  url: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=113
  description: >-
    ORPHA:113 supplies the disease definition, synonyms, inheritance, onset,
    prevalence, and HPO phenotype-frequency rows for hereditary BDCS.
  evidence:
  - reference: ORPHA:113
    reference_title: "Bazex-Dupré-Christol syndrome (Orphanet structured-database record)"
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas."
    explanation: Orphanet identifies ORPHA:113 as the hereditary BDCS record.
- name: Paraneoplastic Bazex syndrome record excluded from BDCS phenotype import
  source: Orphanet
  assertion_type: structured_disease_record
  external_id: ORPHA:166113
  url: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166113
  description: >-
    ORPHA:166113 describes acquired paraneoplastic acrokeratosis of Bazex, not
    hereditary Bazex-Dupre-Christol syndrome; its adult paraneoplastic
    phenotype rows are therefore excluded from this BDCS curation.
  evidence:
  - reference: ORPHA:166113
    reference_title: "Bazex syndrome (Orphanet structured-database record)"
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "A rare paraneoplastic syndrome characterized by acral psoriasiform lesions"
    explanation: The Orphanet definition establishes ORPHA:166113 as a distinct paraneoplastic syndrome rather than hereditary BDCS.
definitions:
- name: Hereditary genodermatosis with basal-cell-carcinoma predisposition
  definition_type: OTHER
  description: >-
    BDCS is defined by a triad of basal cell carcinoma susceptibility,
    follicular atrophoderma, and hypotrichosis, with additional milia and
    sweating abnormalities.
  evidence:
  - reference: ORPHA:113
    reference_title: "Bazex-Dupré-Christol syndrome (Orphanet structured-database record)"
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas."
    explanation: Orphanet provides the concise structured disease definition.
  - reference: PMID:29808590
    reference_title: "Bazex-Dupré-Christol syndrome: review of clinical and molecular aspects."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "Bazex-Dupré-Christol syndrome is a rare genodermatosis that manifests with the classical triad of basal cell carcinoma, follicular atrophoderma, and hypotrichosis"
    explanation: A clinical review states the classical triad of BDCS.
inheritance:
- name: X-linked dominant inheritance
  inheritance_term:
    preferred_term: X-linked dominant inheritance
    term:
      id: HP:0001423
      label: X-linked dominant inheritance
  evidence:
  - reference: ORPHA:113
    reference_title: "Bazex-Dupré-Christol syndrome (Orphanet structured-database record)"
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "X-linked dominant"
    explanation: Orphanet records X-linked dominant inheritance.
  - reference: PMID:8782050
    reference_title: "A Scottish family with Bazex-Dupré-Christol syndrome: follicular atrophoderma, congenital hypotrichosis, and basal cell carcinoma."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Bazex-Dupre-Christol syndrome (BDCS) is an X linked dominant disorder of the hair follicle"
    explanation: A multigeneration family report supports X-linked dominant inheritance.
prevalence:
- population: Worldwide
  percentage: <1 per 1,000,000
  notes: Orphanet classifies BDCS as ultra-rare worldwide.
  evidence:
  - reference: ORPHA:113
    reference_title: "Bazex-Dupré-Christol syndrome (Orphanet structured-database record)"
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "<1 / 1 000 000 | Worldwide | Point prevalence | ORPHANET"
    explanation: Orphanet reports worldwide point prevalence below one per million.
progression:
- phase: Onset
  age_range: Neonatal to infancy
  notes: >-
    Hair and follicular features may be present in infancy or childhood, while
    basal cell carcinomas typically emerge later and drive long-term
    surveillance.
  evidence:
  - reference: ORPHA:113
    reference_title: "Bazex-Dupré-Christol syndrome (Orphanet structured-database record)"
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "Age of onset: Infancy"
    explanation: Orphanet records infancy onset.
  - reference: ORPHA:113
    reference_title: "Bazex-Dupré-Christol syndrome (Orphanet structured-database record)"
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "Age of onset: Neonatal"
    explanation: Orphanet records neonatal onset.
genetic:
- name: Xq26.1 noncoding duplications dysregulating ARHGAP36
  gene_term:
    preferred_term: ARHGAP36
    term:
      id: hgnc:26388
      label: ARHGAP36
  association: Noncoding tandem duplications at Xq26.1 most likely dysregulate ARHGAP36
  relationship_type: CAUSATIVE
  variant_origin: GERMLINE
  notes: >-
    Earlier reports proposed ACTRT1 or ACTRT1 enhancer RNA defects, but the
    larger eight-family copy-number study concluded that Xq26.1 intergenic
    duplications most likely dysregulate ARHGAP36 and that ACTRT1
    loss-of-function is unlikely to be the primary BDCS cause.
  evidence:
  - reference: PMID:35986704
    reference_title: Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "In eight families with BDCS, we identified overlapping 18-135-kb duplications (six inherited and two de novo) at Xq26.1, flanked by ARHGAP36 and IGSF1."
    explanation: A multi-family copy-number study identifies recurrent Xq26.1 duplications.
  - reference: PMID:35986704
    reference_title: Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Noncoding Xq26.1 duplications cause BDCS."
    explanation: The authors state the current causal model for BDCS.
  - reference: PMID:35986704
    reference_title: Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "The BDCS duplications most likely lead to dysregulation of ARHGAP36."
    explanation: The study connects the duplications to likely ARHGAP36 dysregulation.
  - reference: PMID:35986704
    reference_title: Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "ACTRT1 loss-of-function variants are unlikely to cause BDCS."
    explanation: This explains why ARHGAP36-region dysregulation is modeled as the primary genetic mechanism rather than ACTRT1 loss of function.
pathophysiology:
- name: Xq26.1 duplication-mediated ARHGAP36 dysregulation
  description: >-
    Germline noncoding tandem duplications at Xq26.1 alter a regulatory region
    flanked by ARHGAP36 and IGSF1, most likely causing abnormal ARHGAP36
    expression in follicular and basal-cell-tumor-relevant tissues.
  genes:
  - preferred_term: ARHGAP36
    term:
      id: hgnc:26388
      label: ARHGAP36
  evidence:
  - reference: PMID:35986704
    reference_title: Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "The Xq26.1 BDCS duplications likely dysregulate ARHGAP36, the flanking centromeric gene."
    explanation: The copy-number study identifies ARHGAP36 dysregulation as the likely effect of BDCS duplications.
  downstream:
  - target: Hair follicle compartment dysregulation
    description: Altered ARHGAP36-region regulation affects follicular compartments central to BDCS ectodermal findings.
- name: Hair follicle compartment dysregulation
  description: >-
    BDCS affects the hair follicle compartment, producing congenital
    hypotrichosis, hair-shaft abnormalities, follicular atrophoderma, and
    related ectodermal signs.
  cell_types:
  - preferred_term: hair follicle cell
    term:
      id: CL:0002559
      label: hair follicle cell
  biological_processes:
  - preferred_term: hair follicle development
    modifier: ABNORMAL
    term:
      id: GO:0001942
      label: hair follicle development
  evidence:
  - reference: PMID:35986704
    reference_title: Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "We detected ARHGAP36 expression near the control hair follicular stem cell compartment, and found increased ARHGAP36 levels in hair follicles in telogen, in BCCs and in trichoepitheliomas from patients with BDCS."
    explanation: Patient tissue data link ARHGAP36 dysregulation to hair follicles and basal-cell tumor tissue.
  - reference: PMID:8782050
    reference_title: "A Scottish family with Bazex-Dupré-Christol syndrome: follicular atrophoderma, congenital hypotrichosis, and basal cell carcinoma."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Bazex-Dupre-Christol syndrome (BDCS) is an X linked dominant disorder of the hair follicle characterised by follicular atrophoderma, multiple basal cell carcinomas, hypotrichosis, milia, and localised hypohidrosis."
    explanation: The family report describes BDCS as a hair-follicle disorder with the characteristic ectodermal phenotype.
  downstream:
  - target: Ciliary and Hedgehog pathway abnormalities in inherited basal-cell-cancer biology
    description: Follicular and basal-cell-tumor tissue abnormalities intersect with ciliary and Hedgehog-pathway mechanisms described in inherited BCC studies.
- name: Ciliary and Hedgehog pathway abnormalities in inherited basal-cell-cancer biology
  description: >-
    Mechanistic studies in BDCS-associated and inherited basal-cell-cancer
    contexts show shortened primary cilia and Hedgehog pathway activation,
    offering a plausible route from follicular dysregulation to basal-cell
    carcinoma susceptibility.
  biological_processes:
  - preferred_term: cilium organization
    modifier: ABNORMAL
    term:
      id: GO:0044782
      label: cilium organization
  - preferred_term: smoothened signaling pathway
    modifier: INCREASED
    term:
      id: GO:0007224
      label: smoothened signaling pathway
  evidence:
  - reference: PMID:33972689
    reference_title: ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Tissue samples from ARP-T1-associated BDCS patients have reduced ciliary length."
    explanation: Patient tissue and cellular data support ciliary abnormalities in a BDCS-associated inherited basal-cell-cancer context.
  - reference: PMID:28869610
    reference_title: Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "loss of ARP-T1 led to activation of the Hedgehog pathway in individuals with BDCS."
    explanation: The ACTRT1/eRNA study links an inherited BDCS context to Hedgehog-pathway activation, while the genetic section notes the newer ARHGAP36-region model.
  downstream:
  - target: Follicular ectodermal phenotype and basal cell carcinoma susceptibility
    description: Ciliary and Hedgehog-pathway abnormalities support the combined ectodermal and basal-cell-carcinoma phenotype.
- name: Follicular ectodermal phenotype and basal cell carcinoma susceptibility
  description: >-
    The downstream syndrome combines congenital hypotrichosis and hair-shaft
    abnormalities, milia, hypohidrosis, follicular atrophoderma, and early-onset
    basal cell carcinomas.
  evidence:
  - reference: PMID:29808590
    reference_title: "Bazex-Dupré-Christol syndrome: review of clinical and molecular aspects."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "the classical triad of basal cell carcinoma, follicular atrophoderma, and hypotrichosis"
    explanation: A clinical review summarizes the core downstream BDCS phenotype.
  - reference: PMID:18304168
    reference_title: Bazex-Dupré-Christol syndrome in a 1-year-old boy and his mother.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "characterized by follicular atrophoderma, multiple milia, congenital hypotrichosis, hypohidrosis and basal cell malformations"
    explanation: A mother-child report supports the core ectodermal and basal-cell phenotype.
phenotypes:
- category: Craniofacial
  name: Macrotia
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Macrotia
    term:
      id: HP:0000400
      label: Macrotia
  evidence:
  - reference: ORPHA:113
    reference_title: "Bazex-Dupré-Christol syndrome (Orphanet structured-database record)"
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "HP:0000400 | Macrotia | Occasional (29-5%)"
    explanation: Orphanet lists macrotia as occasional.
- category: Musculoskeletal
  name: Abnormal clavicle morphology
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Abnormal clavicle morphology
    term:
      id: HP:0000889
      label: Abnormal clavicle morphology
  evidence:
  - reference: ORPHA:113
    reference_title: "Bazex-Dupré-Christol syndrome (Orphanet structured-database record)"
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "HP:0000889 | Abnormality of the clavicle | Occasional (29-5%)"
    explanation: Orphanet lists clavicular abnormality as occasional.
- category: Dermatologic
  name: Milia
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Milia
    term:
      id: HP:0001056
      label: Milia
  evidence:
  - reference: ORPHA:113
    reference_title: "Bazex-Dupré-Christol syndrome (Orphanet structured-database record)"
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "HP:0001056 | Milia | Frequent (79-30%)"
    explanation: Orphanet lists milia as frequent.
- category: Dermatologic
  name: Follicular atrophoderma
  phenotype_term:
    preferred_term: Abnormal perifollicular morphology
    term:
      id: HP:0031285
      label: Abnormal perifollicular morphology
  evidence:
  - reference: PMID:8782050
    reference_title: "A Scottish family with Bazex-Dupré-Christol syndrome: follicular atrophoderma, congenital hypotrichosis, and basal cell carcinoma."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Follicular atrophoderma (FA) are follicular funnel shaped depressions, \"ice pick marks\", seen most commonly on the dorsum of the hands."
    explanation: The family report defines follicular atrophoderma as follicular depressions; HP:0031285 is used because local and current HPO resolve HP:0007440 to generalized hyperpigmentation, not follicular atrophoderma.
- category: Dermatologic
  name: Hypohidrosis
  phenotype_term:
    preferred_term: Hypohidrosis
    term:
      id: HP:0000966
      label: Hypohidrosis
  evidence:
  - reference: PMID:18304168
    reference_title: Bazex-Dupré-Christol syndrome in a 1-year-old boy and his mother.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Hypohidrosis was observed on his trunk and head."
    explanation: The mother-child report directly documents hypohidrosis.
- category: Musculoskeletal
  name: Abnormal finger morphology
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Abnormal finger morphology
    term:
      id: HP:0001167
      label: Abnormal finger morphology
  evidence:
  - reference: ORPHA:113
    reference_title: "Bazex-Dupré-Christol syndrome (Orphanet structured-database record)"
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "HP:0001167 | Abnormality of finger | Occasional (29-5%)"
    explanation: Orphanet lists abnormality of finger as occasional.
- category: Dermatologic
  name: Subcutaneous nodule
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Subcutaneous nodule
    term:
      id: HP:0001482
      label: Subcutaneous nodule
  evidence:
  - reference: ORPHA:113
    reference_title: "Bazex-Dupré-Christol syndrome (Orphanet structured-database record)"
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "HP:0001482 | Subcutaneous nodule | Frequent (79-30%)"
    explanation: Orphanet lists subcutaneous nodule as frequent.
- category: Hair
  name: Coarse hair
  frequency: VERY_FREQUENT
  phenotype_term:
    preferred_term: Coarse hair
    term:
      id: HP:0002208
      label: Coarse hair
  evidence:
  - reference: ORPHA:113
    reference_title: "Bazex-Dupré-Christol syndrome (Orphanet structured-database record)"
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "HP:0002208 | Coarse hair | Very frequent (99-80%)"
    explanation: Orphanet lists coarse hair as very frequent.
- category: Hair
  name: Sparse scalp hair
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Sparse scalp hair
    term:
      id: HP:0002209
      label: Sparse scalp hair
  evidence:
  - reference: ORPHA:113
    reference_title: "Bazex-Dupré-Christol syndrome (Orphanet structured-database record)"
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "HP:0002209 | Sparse scalp hair | Frequent (79-30%)"
    explanation: Orphanet lists sparse scalp hair as frequent.
- category: Oncologic
  name: Basal cell carcinoma
  frequency: FREQUENT
  diagnostic: true
  phenotype_term:
    preferred_term: Basal cell carcinoma
    term:
      id: HP:0002671
      label: Basal cell carcinoma
  evidence:
  - reference: ORPHA:113
    reference_title: "Bazex-Dupré-Christol syndrome (Orphanet structured-database record)"
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "HP:0002671 | Basal cell carcinoma | Frequent (79-30%)"
    explanation: Orphanet lists basal cell carcinoma as frequent.
  - reference: PMID:40015599
    reference_title: "Early onset basal cell carcinoma: Consider Bazex-Dupré-Christol syndrome."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Bazex-Dupré-Christol syndrome is a rare genetic condition characterised by basal cell carcinomas, follicular atrophoderma and hypotrichosis."
    explanation: A recent family case report reinforces basal cell carcinoma as a defining feature.
- category: Hair
  name: Pili torti
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Pili torti
    term:
      id: HP:0003777
      label: Pili torti
  evidence:
  - reference: ORPHA:113
    reference_title: "Bazex-Dupré-Christol syndrome (Orphanet structured-database record)"
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "HP:0003777 | Pili torti | Frequent (79-30%)"
    explanation: Orphanet lists pili torti as frequent.
- category: Hair
  name: Sparse hair
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Sparse hair
    term:
      id: HP:0008070
      label: Sparse hair
  evidence:
  - reference: ORPHA:113
    reference_title: "Bazex-Dupré-Christol syndrome (Orphanet structured-database record)"
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "HP:0008070 | Sparse hair | Frequent (79-30%)"
    explanation: Orphanet lists sparse hair as frequent.
- category: Hair
  name: Trichorrhexis nodosa
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Trichorrhexis nodosa
    term:
      id: HP:0009886
      label: Trichorrhexis nodosa
  evidence:
  - reference: ORPHA:113
    reference_title: "Bazex-Dupré-Christol syndrome (Orphanet structured-database record)"
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "HP:0009886 | Trichorrhexis nodosa | Frequent (79-30%)"
    explanation: Orphanet lists trichorrhexis nodosa as frequent.
- category: Hair
  name: Sparse eyebrow
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Sparse eyebrow
    term:
      id: HP:0045075
      label: Sparse eyebrow
  evidence:
  - reference: ORPHA:113
    reference_title: "Bazex-Dupré-Christol syndrome (Orphanet structured-database record)"
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "HP:0045075 | Sparse eyebrow | Frequent (79-30%)"
    explanation: Orphanet lists sparse eyebrow as frequent.
- category: Craniofacial
  name: Hypoplasia of the ear cartilage
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Hypoplasia of the ear cartilage
    term:
      id: HP:0100720
      label: Hypoplasia of the ear cartilage
  evidence:
  - reference: ORPHA:113
    reference_title: "Bazex-Dupré-Christol syndrome (Orphanet structured-database record)"
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "HP:0100720 | Hypoplasia of the ear cartilage | Occasional (29-5%)"
    explanation: Orphanet lists ear-cartilage hypoplasia as occasional.
- category: Musculoskeletal
  name: Exostoses
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Exostoses
    term:
      id: HP:0100777
      label: Exostoses
  evidence:
  - reference: ORPHA:113
    reference_title: "Bazex-Dupré-Christol syndrome (Orphanet structured-database record)"
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "HP:0100777 | Exostoses | Occasional (29-5%)"
    explanation: Orphanet lists exostoses as occasional.
- category: Hair
  name: Sparse or absent eyelashes
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Sparse or absent eyelashes
    term:
      id: HP:0200102
      label: Sparse or absent eyelashes
  evidence:
  - reference: ORPHA:113
    reference_title: "Bazex-Dupré-Christol syndrome (Orphanet structured-database record)"
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "HP:0200102 | Sparse or absent eyelashes | Frequent (79-30%)"
    explanation: Orphanet lists sparse or absent eyelashes as frequent.
diagnosis:
- name: Dermatologic clinical assessment
  description: >-
    Clinical assessment should consider BDCS when congenital hypotrichosis,
    follicular atrophoderma, milia, hypohidrosis, and early-onset or familial
    basal cell carcinomas occur together.
  diagnosis_term:
    preferred_term: clinical assessment
    term:
      id: MAXO:0000487
      label: clinical assessment
  results: A compatible hereditary follicular and basal-cell-carcinoma phenotype supports BDCS.
  evidence:
  - reference: PMID:8129412
    reference_title: The Bazex-Dupré-Christol syndrome.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "The Bazex-Dupré-Christol syndrome is characterized by follicular atrophoderma, congenital hypotrichosis, and basal cell neoformations that include basal cell carcinomas and basal cell nevi."
    explanation: A large family report states the core clinical diagnostic pattern.
  - reference: PMID:8782050
    reference_title: "A Scottish family with Bazex-Dupré-Christol syndrome: follicular atrophoderma, congenital hypotrichosis, and basal cell carcinoma."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "BDCS should be considered as a differential diagnosis in patients with early onset or familial basal cell carcinomas."
    explanation: The family report directly supports considering BDCS in early-onset or familial BCC presentations.
- name: Xq26.1 duplication testing
  description: >-
    Copy-number testing or genome sequencing for Xq26.1 duplications can support
    molecular diagnosis, especially in families with early-onset basal cell
    carcinoma and follicular BDCS features.
  diagnosis_term:
    preferred_term: genetic testing
    term:
      id: MAXO:0000127
      label: genetic testing
  results: A pathogenic noncoding Xq26.1 duplication supports molecular diagnosis.
  evidence:
  - reference: PMID:35986704
    reference_title: Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "This study provides the basis for accurate genetic testing for BDCS, which will aid precise diagnosis and appropriate surveillance and clinical management."
    explanation: The current genetic study directly supports Xq26.1-duplication testing for BDCS diagnosis.
  - reference: PMID:40015599
    reference_title: "Early onset basal cell carcinoma: Consider Bazex-Dupré-Christol syndrome."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "The index patient within this family has now been identified as having the same duplication as those tested in the initial study."
    explanation: A recent family report confirms the duplication finding in an additional BDCS family.
treatments:
- name: Lesion-directed surgical removal of basal cell carcinomas
  description: >-
    Basal cell carcinomas arising in BDCS require standard lesion-directed BCC
    management, with surgical removal used for most lesions after risk
    stratification.
  treatment_term:
    preferred_term: surgical excision
    term:
      id: MAXO:0000447
      label: surgical excision
  target_phenotypes:
  - preferred_term: Basal cell carcinoma
    term:
      id: HP:0002671
      label: Basal cell carcinoma
  evidence:
  - reference: DOI:10.1111/ddg.15566
    reference_title: S2k guideline basal cell carcinoma of the skin (update 2023)
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "Surgical removal remains the treatment of first choice in most cases."
    explanation: BCC treatment guidance supports surgical excision for the basal cell carcinoma phenotype targeted in BDCS management.
- name: Genetic counseling
  description: >-
    Counseling addresses X-linked dominant inheritance, variable expression,
    recurrence risk, and the need for follow-up and surveillance in affected
    families.
  treatment_term:
    preferred_term: genetic counseling
    term:
      id: MAXO:0000079
      label: genetic counseling
  evidence:
  - reference: PMID:29808590
    reference_title: "Bazex-Dupré-Christol syndrome: review of clinical and molecular aspects."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "the opportunity of counseling and following up is missed."
    explanation: The clinical review specifically highlights missed counseling and follow-up opportunities when diagnosis is delayed.
  - reference: PMID:8129412
    reference_title: The Bazex-Dupré-Christol syndrome.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "further evidence of an X-linked dominant mode of inheritance could be derived from the observation of gender differences"
    explanation: Inheritance evidence supports counseling for X-linked dominant transmission and variable expression.
references:
- reference: ORPHA:113
  title: Bazex-Dupré-Christol syndrome
  found_in:
  - Bazex_Dupre_Christol_Syndrome-deep-research-fallback.md
  findings:
  - statement: ORPHA:113 provides the hereditary BDCS definition, inheritance, onset, prevalence, and HPO phenotype-frequency rows.
    supporting_text: "Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas."
- reference: ORPHA:166113
  title: Bazex syndrome
  found_in:
  - Bazex_Dupre_Christol_Syndrome-deep-research-fallback.md
  findings:
  - statement: ORPHA:166113 is a distinct paraneoplastic acrokeratosis of Bazex record and was excluded from hereditary BDCS phenotype import.
    supporting_text: "A rare paraneoplastic syndrome characterized by acral psoriasiform lesions"
- reference: PMID:35986704
  title: Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
  found_in:
  - Bazex_Dupre_Christol_Syndrome-deep-research-fallback.md
  findings:
  - statement: Eight-family evidence supports noncoding Xq26.1 duplications as causal for BDCS and ARHGAP36 dysregulation as the likely molecular effect.
    supporting_text: "Noncoding Xq26.1 duplications cause BDCS."
- reference: PMID:28869610
  title: Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.
  found_in:
  - Bazex_Dupre_Christol_Syndrome-deep-research-fallback.md
  findings:
  - statement: The ACTRT1/eRNA study provides mechanistic evidence for Hedgehog activation in inherited BDCS-associated basal cell carcinoma biology.
    supporting_text: "loss of ARP-T1 led to activation of the Hedgehog pathway in individuals with BDCS."
- reference: PMID:33972689
  title: ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies.
  found_in:
  - Bazex_Dupre_Christol_Syndrome-deep-research-fallback.md
  findings:
  - statement: ARP-T1-associated BDCS tissue and cellular studies support shortened cilia and ciliopathy-like basal-cell-cancer biology.
    supporting_text: "Tissue samples from ARP-T1-associated BDCS patients have reduced ciliary length."
- reference: PMID:29808590
  title: "Bazex-Dupré-Christol syndrome: review of clinical and molecular aspects."
  found_in:
  - Bazex_Dupre_Christol_Syndrome-deep-research-fallback.md
  findings:
  - statement: The review summarizes the clinical triad and notes delayed diagnosis can miss counseling and follow-up opportunities.
    supporting_text: "classical triad of basal cell carcinoma, follicular atrophoderma, and hypotrichosis"
- reference: PMID:8782050
  title: "A Scottish family with Bazex-Dupré-Christol syndrome: follicular atrophoderma, congenital hypotrichosis, and basal cell carcinoma."
  found_in:
  - Bazex_Dupre_Christol_Syndrome-deep-research-fallback.md
  findings:
  - statement: A three-generation Scottish family supports X-linked dominant inheritance and the characteristic hair follicle, milia, hypohidrosis, and BCC phenotype.
    supporting_text: "five affected members spanning three generations"
- reference: PMID:18304168
  title: Bazex-Dupré-Christol syndrome in a 1-year-old boy and his mother.
  found_in:
  - Bazex_Dupre_Christol_Syndrome-deep-research-fallback.md
  findings:
  - statement: A mother-child report supports early-life follicular, hair, milia, hypohidrosis, and basal-cell features.
    supporting_text: "characterized by follicular atrophoderma, multiple milia, congenital hypotrichosis, hypohidrosis and basal cell malformations"
- reference: PMID:8129412
  title: The Bazex-Dupré-Christol syndrome.
  found_in:
  - Bazex_Dupre_Christol_Syndrome-deep-research-fallback.md
  findings:
  - statement: A large family report supports the clinical pattern and X-linked dominant inheritance.
    supporting_text: "20 persons across four generations present with typical features of the Bazex-Dupré-Christol syndrome."
- reference: PMID:40015599
  title: "Early onset basal cell carcinoma: Consider Bazex-Dupré-Christol syndrome."
  found_in:
  - Bazex_Dupre_Christol_Syndrome-deep-research-fallback.md
  findings:
  - statement: A recent family report confirms Xq26.1 duplication testing in a family with five affected members across three generations.
    supporting_text: "The index patient within this family has now been identified as having the same duplication"
- reference: DOI:10.1111/ddg.15566
  title: S2k guideline basal cell carcinoma of the skin (update 2023)
  found_in:
  - Bazex_Dupre_Christol_Syndrome-deep-research-fallback.md
  findings:
  - statement: General BCC management guidance supports surgical removal for most BCC lesions.
    supporting_text: "Surgical removal remains the treatment of first choice in most cases."
📚

References & Deep Research

References

11
ORPHA:113
Bazex-Dupré-Christol syndrome
1 finding
ORPHA:113 provides the hereditary BDCS definition, inheritance, onset, prevalence, and HPO phenotype-frequency rows.
"Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas."
ORPHA:166113
Bazex syndrome
1 finding
ORPHA:166113 is a distinct paraneoplastic acrokeratosis of Bazex record and was excluded from hereditary BDCS phenotype import.
"A rare paraneoplastic syndrome characterized by acral psoriasiform lesions"
PMID:35986704
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
1 finding
Eight-family evidence supports noncoding Xq26.1 duplications as causal for BDCS and ARHGAP36 dysregulation as the likely molecular effect.
"Noncoding Xq26.1 duplications cause BDCS."
PMID:28869610
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.
1 finding
The ACTRT1/eRNA study provides mechanistic evidence for Hedgehog activation in inherited BDCS-associated basal cell carcinoma biology.
"loss of ARP-T1 led to activation of the Hedgehog pathway in individuals with BDCS."
PMID:33972689
ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies.
1 finding
ARP-T1-associated BDCS tissue and cellular studies support shortened cilia and ciliopathy-like basal-cell-cancer biology.
"Tissue samples from ARP-T1-associated BDCS patients have reduced ciliary length."
PMID:29808590
Bazex-Dupré-Christol syndrome: review of clinical and molecular aspects.
1 finding
The review summarizes the clinical triad and notes delayed diagnosis can miss counseling and follow-up opportunities.
"classical triad of basal cell carcinoma, follicular atrophoderma, and hypotrichosis"
PMID:8782050
A Scottish family with Bazex-Dupré-Christol syndrome: follicular atrophoderma, congenital hypotrichosis, and basal cell carcinoma.
1 finding
A three-generation Scottish family supports X-linked dominant inheritance and the characteristic hair follicle, milia, hypohidrosis, and BCC phenotype.
"five affected members spanning three generations"
PMID:18304168
Bazex-Dupré-Christol syndrome in a 1-year-old boy and his mother.
1 finding
A mother-child report supports early-life follicular, hair, milia, hypohidrosis, and basal-cell features.
"characterized by follicular atrophoderma, multiple milia, congenital hypotrichosis, hypohidrosis and basal cell malformations"
PMID:8129412
The Bazex-Dupré-Christol syndrome.
1 finding
A large family report supports the clinical pattern and X-linked dominant inheritance.
"20 persons across four generations present with typical features of the Bazex-Dupré-Christol syndrome."
PMID:40015599
Early onset basal cell carcinoma: Consider Bazex-Dupré-Christol syndrome.
1 finding
A recent family report confirms Xq26.1 duplication testing in a family with five affected members across three generations.
"The index patient within this family has now been identified as having the same duplication"
DOI:10.1111/ddg.15566
S2k guideline basal cell carcinoma of the skin (update 2023)
1 finding
General BCC management guidance supports surgical removal for most BCC lesions.
"Surgical removal remains the treatment of first choice in most cases."

Deep Research

1
Bazex-Dupre-Christol Syndrome Deep Research Fallback ▸

Bazex-Dupre-Christol Syndrome Deep Research Fallback

Scope

This fallback artifact supports curation of Bazex-Dupre-Christol syndrome (BDCS), represented by MONDO:0010535 and the structured hereditary Orphanet record ORPHA:113.

Structured Sources

  • ORPHA:113 provides the hereditary BDCS definition, synonyms, X-linked dominant inheritance, neonatal/infancy onset, ultra-rare worldwide prevalence, and 15 HPO phenotype-frequency rows.
  • ORPHA:166113 describes adult-onset paraneoplastic acrokeratosis of Bazex. It shares the ambiguous label "Bazex syndrome" but is clinically distinct from hereditary BDCS; its phenotype rows were not imported.

PubMed and Guideline Sources Used

  • PMID:35986704: eight-family copy-number study identifying noncoding Xq26.1 duplications and likely ARHGAP36 dysregulation as the current causal model.
  • PMID:28869610: ACTRT1/eRNA inherited and sporadic basal-cell-carcinoma study supporting Hedgehog pathway activation in a BDCS-associated mechanism, used as mechanistic context because newer work argues ACTRT1 loss-of-function is unlikely to be the primary BDCS cause.
  • PMID:33972689: ARP-T1-associated BDCS tissue/cell study supporting shortened cilia and ciliopathy-like skin-cancer biology.
  • PMID:29808590: clinical/molecular review summarizing the classic BDCS triad and missed counseling/follow-up opportunity with delayed diagnosis.
  • PMID:8782050: Scottish family report supporting X-linked dominant inheritance, hair follicle disorder framing, and early-onset/familial BCC differential diagnosis.
  • PMID:18304168: mother-child report supporting early-life follicular, hair, milia, hypohidrosis, and basal-cell features.
  • PMID:8129412: large family report supporting clinical pattern, sex-dependent expression, and X-linked dominant inheritance.
  • PMID:40015599: recent family report confirming the Xq26.1 duplication in an additional family.
  • DOI:10.1111/ddg.15566: basal cell carcinoma guideline supporting surgical removal as first-choice management for most BCC lesions.

Curation Boundaries

  • All ORPHA:113 HPO phenotype-frequency rows are represented.
  • ORPHA:166113 phenotypes were deliberately excluded because that record is a distinct paraneoplastic condition rather than hereditary BDCS.
  • The genetic section uses Xq26.1 duplication-mediated ARHGAP36 dysregulation as the primary current model, while retaining ACTRT1/ARP-T1 ciliary and Hedgehog evidence only as mechanistic context.
  • Treatment curation is limited to lesion-directed surgical removal of basal cell carcinomas and genetic counseling because those have quotable cached evidence in the current source set.

Provider Attempts

  • timeout 75s just research-disorder falcon Bazex_Dupre_Christol_Syndrome was terminated by the timeout (signal 15 / exit 124) before producing a provider artifact.
  • timeout 75s just research-disorder openai Bazex_Dupre_Christol_Syndrome was terminated by the timeout (signal 15 / exit 124) before producing a provider artifact.

The curation was completed from structured Orphanet rows and cached PubMed/guideline evidence to avoid blocking on provider availability.