Dowling–Degos Disease: Comprehensive Disease-Characteristics Report

Executive summary

Dowling–Degos disease (DDD) is a rare, chronic, autosomal-dominant reticulate pigmentary genodermatosis. It usually begins after puberty and slowly progresses with small brown-to-black macules and hyperkeratotic papules, particularly in flexures; comedone-like lesions, follicular plugging, perioral pitted scars, pruritus, and burning may accompany the pigmentation. Four genes are firmly associated with DDD—KRT5, POFUT1, POGLUT1, and PSENEN—and available evidence supports loss of function/haploinsufficiency. Recent 2023–2024 work strengthens a unifying model in which disturbed keratin organization or defective Notch-receptor glycosylation/cleavage reduces melanocyte Notch signaling and alters pigment handling. There is no curative or approved DDD-specific treatment; management is symptomatic and cosmetic, with evidence largely limited to case reports. DDD is not known to shorten life, but itch, inflammation, visible pigmentation, hidradenitis suppurativa (HS), and stigmatization can impair quality of life. (kumar2024morbusdowlingdegos pages 37-39, kumar2024morbusdowlingdegos pages 1-9, kumar2024morbusdowlingdegos pages 25-29)

1. Disease information

Definition and identifiers

DDD is a genetically and clinically heterogeneous disorder of epidermal pigmentation and keratinization. The most current retrieved disease-level identifier is MONDO:0008371. Reported Mendelian subtype entries are OMIM/MIM 179850, 615327, 615696, and 613736. Open Targets independently associates MONDO:0008371 with KRT5, POFUT1, POGLUT1, and PSENEN. (OpenTargets Search: Dowling-Degos disease-KRT5,POFUT1,POGLUT1,PSENEN, kumar2024morbusdowlingdegos pages 1-9)

Synonyms: Dowling–Degos disease; Dowling-Degos disease; Morbus Dowling-Degos; reticulate pigmented anomaly of the flexures; reticulate pigmentary disorder of the flexures; “dermatose pigmentaire réticulée des plis.” The term Galli–Galli disease denotes an acantholytic histopathologic variant within the DDD spectrum rather than a clearly separate disorder. The name DDD was introduced in 1978, following the descriptions by Dowling and Freudenthal in 1938 and Degos and Ossipowski in 1954. (kumar2024morbusdowlingdegos pages 1-9, batyckabaran2010dowlingdegosdiseasecase pages 4-5)

No uniquely specific ICD-10, ICD-11, or MeSH code was established in the retrieved evidence; implementation should therefore use the closest local hereditary pigmentation/genodermatosis code while retaining MONDO and OMIM identifiers. The report is based on aggregated disease resources, published pedigrees, cohorts, biopsies, and experimental studies, not individual EHR-derived data.

2. Etiology, risk, and protective factors

Primary cause

DDD is principally a germline monogenic disorder caused by heterozygous loss-of-function variants in KRT5, POFUT1, POGLUT1, or PSENEN. Haploinsufficiency is the favored mechanism. KRT5 encodes basal-keratinocyte keratin 5; POFUT1 and POGLUT1 glycosylate extracellular EGF-like repeats of Notch receptors; PSENEN encodes PEN-2, a γ-secretase component required for Notch intracellular-domain release. (betz2006lossoffunctionmutationsin pages 2-5, kumar2024morbusdowlingdegos pages 1-9, kumar2024morbusdowlingdegos pages 9-12)

Risk and modifier factors

• Family history: the major risk factor; an affected heterozygous parent ordinarily confers a 50% transmission probability per pregnancy.
• Age: manifestations are commonly postpubertal and age dependent.
• Sex: males and females are genetically affected equally, although clinical ascertainment may differ.
• Smoking and obesity: not established causes of DDD pigmentation. They are plausible modifiers of HS penetrance/severity, particularly in PSENEN-associated DDD–HS overlap. The 2024 synthesis specifically describes increased HS susceptibility with nicotine exposure and/or obesity, but HS literature acknowledges that formal genotype–environment interaction data remain incomplete. In HS generally, smoking is reported in up to 90% of patients, while obesity increases friction and inflammatory signaling; these statistics must not be interpreted as DDD-specific prevalence. (kumar2024morbusdowlingdegos pages 1-9, pace2022thegenomicarchitecture pages 13-14, satoh2024geneticmutationsin pages 5-7)
• No infectious agent, toxin, occupational exposure, diet, alcohol exposure, or ultraviolet exposure has been demonstrated to cause DDD.

No validated genetic or environmental protective factor has been identified. Smoking avoidance and healthy weight are reasonable for reducing general and HS-related risk, but are not proven to prevent DDD pigmentation.

3. Phenotypes

A 44-year-old human case had 2–4-mm dark-brown reticulate macules in axillary and anogenital regions, with insidious onset and enlargement over three months. Histology showed heavily pigmented, lacy finger-like epidermal extensions and dilated follicles without increased melanocyte number. (batyckabaran2010dowlingdegosdiseasecase pages 1-1)

Quality of life: no DDD-specific EQ-5D, SF-36, PROMIS, or validated disease-specific score was found. Nevertheless, itch, burning, inflammatory lesions, visible dyspigmentation, and stigmatization can produce substantial individual distress. DDD does not generally impair cognition, behavior, internal-organ function, or routine laboratory values. (kumar2024morbusdowlingdegos pages 1-9)

4. Genetic and molecular information

Table: This compact table summarizes the core gene-level knowledge base for Dowling-Degos disease, including established causal genes, representative variants, phenotype patterns, and the recent Notch-centered mechanistic evidence. It also separates NCSTN as an emerging hidradenitis suppurativa–DDD overlap finding rather than a fully established canonical DDD gene.

Pathogenic variants and classification

The landmark KRT5 study identified c.418dupA (p.Ile140Asnfs*39) and c.14C>A (p.Ser5*). In two German families containing 24 people, nine were affected; linkage mapped the locus to 12q13.11–q15 with LOD 4.42. The authors modeled 95% penetrance and a 1% phenocopy rate. Their central abstract-level conclusion was: “Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.” (PMID 16465624; published March 2006; DOI/URL: https://doi.org/10.1086/500850). (betz2006lossoffunctionmutationsin pages 2-5, betz2006lossoffunctionmutationsin pages 1-2)

The 2024 founder analysis examined a resource of more than 120 unrelated cases/families from Germany, Denmark, and Switzerland. KRT5 c.418dup occurred in 18 apparently unrelated individuals and shared a common haplotype. Seven recurrent POGLUT1 variants occurred in 21 individuals: c.652C>T (p.Arg218*), c.798-2A>C, c.835C>T (p.Arg279Trp), c.1051C>T (p.Gln351*), c.205C>T (p.Arg69*), c.1080_1081insG (p.Asn361Glufs*5), and c.11G>A (p.Trp4*). Shared 60-kb–6.1-Mb haplotypes supported founder effects rather than recurrent mutational hotspots. The authors state that these are the first data demonstrating KRT5 and POGLUT1 founder effects in DDD. (Published January 2024; DOI/URL: https://doi.org/10.1016/j.jid.2023.04.036). (kumar2024morbusdowlingdegos pages 25-29, kumar2024morbusdowlingdegos pages 39-41, kumar2024morbusdowlingdegos pages 41-42)

Most disease-causing alleles are nonsense, frameshift, canonical splice, initiation-loss, or other loss-of-function variants; missense alleles such as POGLUT1 p.Arg279Trp also occur. They are germline, not somatic. Segmental DDD/Galli–Galli presentations may reflect postzygotic mosaicism, but the retrieved evidence does not quantify mosaic frequency. Exact ClinVar ACMG classifications and gnomAD allele frequencies must be checked variant-by-variant; no defensible universal frequency was available. Pathogenic alleles are expected to be rare, consistent with a rare dominant disorder.

NCSTN should be treated cautiously. Familial NCSTN loss of function has been reported in combined HS–DDD phenotypes, supporting shared γ-secretase/Notch biology, but evidence is insufficient to rank NCSTN alongside the four established isolated-DDD genes. (batyckabaran2010dowlingdegosdiseasecase pages 2-3)

No reproducible modifier gene, epigenetic signature, chromosomal rearrangement, aneuploidy, repeat expansion, mitochondrial defect, or large recurrent copy-number abnormality is established.

5. Environmental information

DDD is not infectious, transmissible, or toxin induced. No causal role is established for smoking, diet, exercise, alcohol, radiation, pollution, or occupational exposure. Friction, heat, sweating, smoking, and obesity may worsen intertriginous inflammation or HS in susceptible patients, but this is extrapolated partly from HS and should not be represented as proven DDD causation. The best recent expert assessment is that obesity/smoking–genotype interactions remain unresolved because phenotype reporting has been inconsistent. (pace2022thegenomicarchitecture pages 13-14, satoh2024geneticmutationsin pages 5-7)

6. Mechanism and pathophysiology

Causal chain

1. Upstream germline loss of function: heterozygous KRT5, POFUT1, POGLUT1, or PSENEN deficiency.
2. Protein/cellular defect:
3. KRT5 deficiency disrupts basal-keratinocyte intermediate-filament dosage, epithelial architecture, organelle positioning, and melanosome uptake/turnover.
4. POFUT1/POGLUT1 deficiency impairs Notch extracellular-domain O-fucosylation/O-glucosylation, affecting folding and ligand-dependent signaling.
5. PSENEN deficiency impairs γ-secretase S3 cleavage and release of the transcriptionally active Notch intracellular domain.
6. Shared signaling consequence: reduced Notch signaling, particularly in melanocytes, with altered membrane trafficking, receptor-tyrosine-kinase, and estrogen-receptor-associated programs.
7. Tissue consequence: abnormal epidermal rete-ridge growth and irregular melanosome distribution/persistence in keratinocytes, without necessarily increasing melanocyte number.
8. Clinical consequence: reticulate hyperpigmentation, hyperkeratotic papules, follicular abnormalities, and—in some γ-secretase genotypes—HS susceptibility. (kumar2024morbusdowlingdegos pages 25-29, kumar2024morbusdowlingdegos pages 9-12, betz2006lossoffunctionmutationsin pages 5-9)

Human and in-vitro evidence

KRT5-mutant skin exhibited epithelial downgrowth, irregular melanosomes, persistent suprabasal melanosomes, and altered perinuclear filaments. The p.Ile140fs protein remained soluble and did not enter the intermediate-filament network, supporting haploinsufficiency rather than a classic dominant-negative keratin mechanism. The authors concluded that K5 haploinsufficiency causes “epithelial remodeling, melanosome mistargeting, and altered perinuclear organization.” (betz2006lossoffunctionmutationsin pages 2-5, betz2006lossoffunctionmutationsin pages 5-9)

In the 2023 transcriptomic study, POGLUT1 and PSENEN siRNA reduced target expression by approximately 82–98% in HaCaT keratinocytes and 59–94% in MZ7-mel melanocyte-derived cells. Notch was the strongest enriched pathway in MZ7-mel cells; cleaved Notch1 decreased after either knockdown. HaCaT cells showed altered individual transcripts but no Notch pathway enrichment. This makes melanocyte Notch deficiency the leading recent unifying hypothesis, not yet a clinically validated biomarker. (Publication August 2023; DOI/URL: https://doi.org/10.1093/bjd/ljad306). (kumar2024morbusdowlingdegos pages 25-29, kumar2024morbusdowlingdegos pages 39-41, kumar2024morbusdowlingdegos pages 16-19, kumar2024morbusdowlingdegos media 1c50c4b0)

Suggested GO biological processes: Notch signaling pathway; epidermal-cell differentiation; keratinocyte differentiation; melanocyte differentiation; melanosome organization; melanosome transport; protein O-linked glycosylation; γ-secretase-mediated intramembrane proteolysis; intermediate-filament organization; cell–cell adhesion; regulation of pigmentation.

Suggested cell types: epidermal keratinocyte (CL:0000312), melanocyte (CL:0000148), basal epithelial cell, hair-follicle keratinocyte, epidermal stem cell.

Suggested GO cellular components: keratin filament, intermediate filament cytoskeleton, melanosome, endoplasmic reticulum, Golgi apparatus, plasma membrane, γ-secretase complex, nucleus.

No validated DDD metabolomic, lipidomic, proteomic, methylomic, spatial-transcriptomic, single-cell, or multi-omic clinical signature was identified.

7. Anatomical structures affected

DDD is primarily a cutaneous epithelial disorder. Principal sites are axillae, groin/anogenital skin, inframammary folds and other large flexures, neck, trunk, face/perioral skin, wrists, hands, and extremities. Distribution varies by gene: KRT5 commonly affects large folds; POFUT1 often produces acral/genital involvement; POGLUT1 often affects extremities; PSENEN may add HS in pilosebaceous/intertriginous units. (kumar2024morbusdowlingdegos pages 1-9, kumar2024morbusdowlingdegos pages 39-41)

At tissue level, the epidermis, rete ridges, follicular infundibulum/pilosebaceous unit, and dermoepidermal junction are involved. Relevant cells are basal keratinocytes and melanocytes. Relevant subcellular structures include keratin intermediate filaments, melanosomes, ER/Golgi glycosylation machinery, plasma-membrane Notch receptors, and γ-secretase. Suggested anatomy terms include UBERON:0002097 skin of body, epidermis, hair follicle, axilla, inguinal region, external genital skin, and face. Lesions are commonly multifocal/bilateral; fixed lateralization is not characteristic.

8. Temporal development

Onset is usually postpubertal, insidious, and chronic. Pigmentation and papules generally spread or darken slowly through adult life and may progress into old age. Expressivity can vary markedly even among relatives carrying the same allele. No validated early/intermediate/advanced staging system exists. Spontaneous durable remission is not characteristic; localized treatment may improve selected lesions, but the inherited predisposition is lifelong. (betz2006lossoffunctionmutationsin pages 1-2, kumar2024morbusdowlingdegos pages 1-9)

9. Inheritance and population

Inheritance is predominantly autosomal dominant, with both familial and apparently sporadic cases. Penetrance is age dependent and likely high but not uniformly complete; the original KRT5 linkage study used 95% penetrance. Expressivity is markedly variable. Genetic anticipation is not established. Germline mosaicism, carrier frequency, and consanguinity effects are not quantified. (betz2006lossoffunctionmutationsin pages 1-2, kumar2024morbusdowlingdegos pages 1-9)

Reliable prevalence and incidence estimates are unavailable. The 2024 founder study suggests underdiagnosis—DDD may be mistaken for lentiginosis or harmless nonspecific pigmentation—and identified geographic founder clustering in Germany. The KRT5 c.418dup founder carriers occupied a relatively restricted German region; POGLUT1 founder alleles were found in Germany, Denmark, and Switzerland. No robust ethnicity-specific prevalence, sex ratio beyond expected 1:1 transmission, or population carrier frequency exists. (kumar2024morbusdowlingdegos pages 42-43, kumar2024morbusdowlingdegos pages 25-29, kumar2024morbusdowlingdegos pages 41-42)

10. Diagnostics

Clinical and pathology assessment

Diagnosis begins with dermatologic examination documenting postpubertal reticulate flexural pigmentation, papules, comedones/follicular plugging, and perioral scars, followed by family history and biopsy when uncertain. Dermoscopy may assist but is not standardized.

Characteristic histopathology includes:

• elongated, branching, antler-like or filiform rete ridges;
• basal-tip hyperpigmentation;
• thinned suprapapillary epidermis;
• follicular plugging, dilated follicles, and horn/pseudocysts;
• normal melanocyte number despite increased/abnormally distributed melanin;
• acantholysis in Galli–Galli disease. (batyckabaran2010dowlingdegosdiseasecase pages 1-1, batyckabaran2010dowlingdegosdiseasecase pages 2-3, kumar2024morbusdowlingdegos pages 1-9)

Routine blood, urine, imaging, electrophysiology, and functional testing are not diagnostic. There is no circulating biomarker.

Genetic testing strategy

1. Use a targeted reticulate-pigmentation/genodermatosis panel containing at least KRT5, POFUT1, POGLUT1, and PSENEN; add NCSTN and other HS genes when HS is prominent.
2. Sequence plus deletion/duplication analysis is appropriate because truncating, splice, missense, and potentially exon-level variants occur.
3. If negative, use exome or genome sequencing with phenotype-driven reanalysis; WGS may detect regulatory, structural, or mosaic variants missed by panels/WES.
4. Test the familial variant in relatives for cascade screening.
5. CMA, karyotype, FISH, mitochondrial sequencing, and repeat-expansion testing are not routine unless another phenotype indicates them.

Differential diagnosis

Important alternatives include reticulate acropigmentation of Kitamura, dyschromatosis universalis hereditaria, dermatopathia pigmentosa reticularis, Naegeli–Franceschetti–Jadassohn syndrome, acanthosis nigricans, Darier disease, Hailey–Hailey disease, confluent and reticulated papillomatosis, lentiginosis syndromes, neurofibromatosis type 1, Laugier–Hunziker syndrome, and mucosal melanotic macules. Clinicopathologic correlation and molecular testing resolve difficult cases. (kumar2024morbusdowlingdegos pages 1-9, batyckabaran2010dowlingdegosdiseasecase pages 3-4)

No newborn or population screening program is indicated. Testing is best targeted to symptomatic individuals and at-risk relatives.

11. Outcome and prognosis

DDD is benign with respect to survival: no evidence indicates shortened life expectancy or disease-specific mortality. It is nevertheless lifelong and generally progressive. Morbidity consists of pruritus, burning, inflammation, cosmetic disfigurement, stigmatization, and HS-associated pain, drainage, infection, sinus tracts, or scarring when present. No 5- or 10-year survival statistics, disability weights, validated prognostic score, or prognostic biomarker exists. Genotype and HS comorbidity may influence distribution and morbidity, but individual prognosis remains difficult because expressivity varies substantially. (kumar2024morbusdowlingdegos pages 1-9)

12. Treatment and real-world implementation

There is no causal, FDA/EMA-approved, or guideline-supported DDD-specific therapy. Evidence is predominantly case reports and small series, so numerical response rates cannot be estimated.

• Education, reassurance, emollients, and itch control: first-line supportive care. Treat secondary inflammation or infection when present. Suggested MAXO: patient education, dermatologic surveillance, pruritus management.
• Topical agents: retinoids, corticosteroids, tacrolimus, hydroquinone/other depigmenting agents, and keratolytics have been tried with inconsistent or temporary benefit; none has high-quality DDD evidence. MAXO: topical pharmacotherapy.
• Systemic retinoids: occasionally attempted for extensive hyperkeratotic disease; responses are inconsistent and toxicity/teratogenicity limits use. MAXO: systemic retinoid therapy.
• Ablative lasers: Er:YAG, fractional Er:YAG, CO₂, and combined Q-switched Nd:YAG/fractional CO₂ have produced improvement in individual reports. Recurrence and post-inflammatory hyperpigmentation are concerns, especially in darker skin. The 2024 synthesis states that Er:YAG yielded good case-level results but warns of post-inflammatory pigmentation. MAXO: laser skin resurfacing/laser therapy. (kumar2024morbusdowlingdegos pages 1-9)
• Excision: rarely appropriate for very localized, refractory lesions; not a systemic cure. MAXO: surgical excision.
• HS overlap: manage according to HS severity using smoking cessation/weight management, topical or systemic antimicrobials, anti-inflammatory therapy, biologics, deroofing, or excision; these treat HS rather than the DDD genotype. Recent HS expert review identifies TNF, IL-1, IL-12/23, IL-17, IL-23, IL-36, and JAK pathways as therapeutic targets, but this is not evidence for treating isolated DDD pigmentation. (satoh2024geneticmutationsin pages 5-7)

Clinical trials: NCT06324552, first posted 22 March 2024, is a prospective observational study of keratinocyte dysfunction in Notch-pathway skin disease. It aims to generate HaCaT knockout and patient hair-follicle epithelial models and test photobiomodulation in vitro. The registered enrollment is 50, but eligibility specifies HS; it is not evidence of clinical efficacy in DDD and its registry status was unknown at retrieval. URL: https://clinicaltrials.gov/study/NCT06324552. (NCT06324552 chunk 1)

No gene therapy, CRISPR therapy, ASO/siRNA therapy, cell therapy, immunotherapy, or validated pharmacogenomic strategy is clinically available.

13. Prevention

Primary prevention of the inherited genotype is not possible after conception. Recommended measures are:

• Genetic counseling about autosomal-dominant transmission, variable/age-dependent expression, and the approximately 50% recurrence risk when a parent is heterozygous.
• Cascade testing for a known familial pathogenic variant, with consent and attention to testing minors for a usually adult-onset, medically nonurgent disorder.
• Reproductive options: prenatal diagnosis and preimplantation genetic testing are technically possible after the familial variant is established; decisions require nondirective counseling.
• Secondary prevention: early dermatologic recognition avoids unnecessary investigations and permits monitoring for HS, itch, inflammation, and psychosocial distress.
• Tertiary prevention: minimize friction and promptly treat inflammatory lesions; smoking cessation and weight optimization are especially reasonable in PSENEN/HS-prone families, although DDD-specific preventive efficacy is unproven.

Vaccination, antimicrobial prophylaxis, and public-health/environmental interventions are not disease-specific measures.

14. Other species and natural disease

No convincing naturally occurring veterinary equivalent of human DDD, breed predisposition, zoonotic transmission, or cross-species infectious susceptibility was identified. Orthologs of KRT5, POFUT1, POGLUT1, and PSENEN are evolutionarily conserved across vertebrates, and Notch signaling is conserved from invertebrates to mammals. Danio rerio (NCBI Taxon 7955) POFUT1 knockdown has been used experimentally, but this is an induced mechanism model rather than naturally occurring DDD. Drosophila Notch biology supplies pathway context, not a validated DDD phenotype. (kumar2024morbusdowlingdegos pages 9-12, kumar2024morbusdowlingdegos pages 37-39)

15. Model organisms and experimental systems

• Human KRT5 cell models: EYFP-p.Ile140fs was expressed in MCF-7 and HaCaT cells. Mutant protein remained soluble, failed to integrate into keratin filaments, and did not destabilize endogenous keratins—strong evidence for haploinsufficiency, but these cultures do not reproduce chronic patterned pigmentation. (betz2006lossoffunctionmutationsin pages 5-9)
• HaCaT keratinocytes and MZ7-mel melanocyte-derived cells: POGLUT1/PSENEN siRNA plus RNA-seq, pathway analysis, and cleaved-Notch1 ELISA established cell-type-specific signaling effects. Strength: mechanistic and quantitative. Limitations: immortalized cells, acute knockdown, incomplete skin architecture, and MZ7-mel’s nonprimary origin. (kumar2024morbusdowlingdegos pages 25-29, kumar2024morbusdowlingdegos pages 16-19, kumar2024morbusdowlingdegos media 1c50c4b0)
• Zebrafish POFUT1 knockdown: supports altered Notch-pathway transcription in vivo. Limitations include transient knockdown, developmental effects, and incomplete correspondence to adult human flexural skin. (kumar2024morbusdowlingdegos pages 9-12)
• Patient-derived follicular epithelial cells: NCT06324552 seeks to establish such models and compare them with engineered HaCaT knockout cells; this is a current real-world translational implementation but has no posted efficacy result. (NCT06324552 chunk 1)

No validated mouse knock-in/knockout model that reproduces the full adult human DDD pigment pattern, no organoid model, and no published DDD-focused genome-wide CRISPR screen were identified.

Evidence quality and key gaps

Evidence is strongest for the four-gene causal architecture, KRT5 haploinsufficiency, characteristic clinicopathology, founder variants, and Notch-pathway disruption. It is moderate for genotype–distribution correlations and PSENEN-associated HS. It is weak for treatment, epidemiology, quality-of-life measurement, environmental modifiers, penetrance by gene, and prognosis beyond the benign nonlethal course. Recent 2023–2024 transcriptomic and founder studies are important advances, but they do not yet provide a biomarker, targeted therapy, population prevalence, or prospective natural-history estimates. Exact ontology identifiers, ClinVar classifications, and population frequencies should be verified at the individual-variant level before database ingestion.

References

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3. (kumar2024morbusdowlingdegos pages 25-29): Sheetal Kumar. Morbus dowling-degos. Text, Sep 2024. URL: https://doi.org/10.48565/bonndoc-397, doi:10.48565/bonndoc-397. This article has 0 citations and is from a peer-reviewed journal.

4. (OpenTargets Search: Dowling-Degos disease-KRT5,POFUT1,POGLUT1,PSENEN): Open Targets Query (Dowling-Degos disease-KRT5,POFUT1,POGLUT1,PSENEN, 4 results). Buniello, A. et al. (2025). Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery. Nucleic Acids Research.

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6. (betz2006lossoffunctionmutationsin pages 2-5): Regina C. Betz, Laura Planko, Sibylle Eigelshoven, Sandra Hanneken, Sandra M. Pasternack, Heinrich Büssow, Kris Van Den Bogaert, Joerg Wenzel, Markus Braun-Falco, Arno Rütten, Michael A. Rogers, Thomas Ruzicka, Markus M. Nöthen, Thomas M. Magin, and Roland Kruse. Loss-of-function mutations in the keratin 5 gene lead to dowling-degos disease. American journal of human genetics, 78 3:510-9, Mar 2006. URL: https://doi.org/10.1086/500850, doi:10.1086/500850. This article has 347 citations and is from a highest quality peer-reviewed journal.

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8. (pace2022thegenomicarchitecture pages 13-14): Nikolai Paul Pace, Dillon Mintoff, and Isabella Borg. The genomic architecture of hidradenitis suppurativa—a systematic review. Frontiers in Genetics, Mar 2022. URL: https://doi.org/10.3389/fgene.2022.861241, doi:10.3389/fgene.2022.861241. This article has 43 citations and is from a peer-reviewed journal.

9. (satoh2024geneticmutationsin pages 5-7): Takashi K. Satoh. Genetic mutations in pyoderma gangrenosum, hidradenitis suppurativa, and associated autoinflammatory syndromes: insights into pathogenic mechanisms and shared pathways. The Journal of Dermatology, 51:160-171, Nov 2024. URL: https://doi.org/10.1111/1346-8138.17028, doi:10.1111/1346-8138.17028. This article has 23 citations.

10. (batyckabaran2010dowlingdegosdiseasecase pages 1-1): Aleksandra Batycka-Baran, Wojciech Baran, Anita Hryncewicz-Gwozdz, and Walter Burgdorf. Dowling-degos disease: case report and review of the literature. Dermatology, 220:254-258, Mar 2010. URL: https://doi.org/10.1159/000278349, doi:10.1159/000278349. This article has 37 citations and is from a peer-reviewed journal.

11. (betz2006lossoffunctionmutationsin pages 1-2): Regina C. Betz, Laura Planko, Sibylle Eigelshoven, Sandra Hanneken, Sandra M. Pasternack, Heinrich Büssow, Kris Van Den Bogaert, Joerg Wenzel, Markus Braun-Falco, Arno Rütten, Michael A. Rogers, Thomas Ruzicka, Markus M. Nöthen, Thomas M. Magin, and Roland Kruse. Loss-of-function mutations in the keratin 5 gene lead to dowling-degos disease. American journal of human genetics, 78 3:510-9, Mar 2006. URL: https://doi.org/10.1086/500850, doi:10.1086/500850. This article has 347 citations and is from a highest quality peer-reviewed journal.

12. (betz2006lossoffunctionmutationsin pages 5-9): Regina C. Betz, Laura Planko, Sibylle Eigelshoven, Sandra Hanneken, Sandra M. Pasternack, Heinrich Büssow, Kris Van Den Bogaert, Joerg Wenzel, Markus Braun-Falco, Arno Rütten, Michael A. Rogers, Thomas Ruzicka, Markus M. Nöthen, Thomas M. Magin, and Roland Kruse. Loss-of-function mutations in the keratin 5 gene lead to dowling-degos disease. American journal of human genetics, 78 3:510-9, Mar 2006. URL: https://doi.org/10.1086/500850, doi:10.1086/500850. This article has 347 citations and is from a highest quality peer-reviewed journal.

13. (kumar2024morbusdowlingdegos pages 39-41): Sheetal Kumar. Morbus dowling-degos. Text, Sep 2024. URL: https://doi.org/10.48565/bonndoc-397, doi:10.48565/bonndoc-397. This article has 0 citations and is from a peer-reviewed journal.

14. (kumar2024morbusdowlingdegos pages 41-42): Sheetal Kumar. Morbus dowling-degos. Text, Sep 2024. URL: https://doi.org/10.48565/bonndoc-397, doi:10.48565/bonndoc-397. This article has 0 citations and is from a peer-reviewed journal.

15. (kumar2024morbusdowlingdegos pages 16-19): Sheetal Kumar. Morbus dowling-degos. Text, Sep 2024. URL: https://doi.org/10.48565/bonndoc-397, doi:10.48565/bonndoc-397. This article has 0 citations and is from a peer-reviewed journal.

16. (batyckabaran2010dowlingdegosdiseasecase pages 2-3): Aleksandra Batycka-Baran, Wojciech Baran, Anita Hryncewicz-Gwozdz, and Walter Burgdorf. Dowling-degos disease: case report and review of the literature. Dermatology, 220:254-258, Mar 2010. URL: https://doi.org/10.1159/000278349, doi:10.1159/000278349. This article has 37 citations and is from a peer-reviewed journal.

17. (kumar2024morbusdowlingdegos media 1c50c4b0): Sheetal Kumar. Morbus dowling-degos. Text, Sep 2024. URL: https://doi.org/10.48565/bonndoc-397, doi:10.48565/bonndoc-397. This article has 0 citations and is from a peer-reviewed journal.

18. (kumar2024morbusdowlingdegos pages 42-43): Sheetal Kumar. Morbus dowling-degos. Text, Sep 2024. URL: https://doi.org/10.48565/bonndoc-397, doi:10.48565/bonndoc-397. This article has 0 citations and is from a peer-reviewed journal.

19. (batyckabaran2010dowlingdegosdiseasecase pages 3-4): Aleksandra Batycka-Baran, Wojciech Baran, Anita Hryncewicz-Gwozdz, and Walter Burgdorf. Dowling-degos disease: case report and review of the literature. Dermatology, 220:254-258, Mar 2010. URL: https://doi.org/10.1159/000278349, doi:10.1159/000278349. This article has 37 citations and is from a peer-reviewed journal.

20. (NCT06324552 chunk 1): Defects of Keratinocytes Function in Dermatologic Patients. IRCCS Burlo Garofolo. 2020. ClinicalTrials.gov Identifier: NCT06324552

Artifacts

• Edison artifact artifact-00