1. Disease Information

1.1 What is the disease?

Autosomal recessive congenital ichthyosis (ARCI) is a non-syndromic, congenital disorder of cornification characterized by generalized scaling with variable erythema and barrier dysfunction, typically presenting at birth (often as a collodion baby) and persisting lifelong. (hotz2023mutationalspectrumof pages 1-2, penacorona2023advancesinthe pages 1-2)

Direct abstract quote (treatment review): “Autosomal recessive congenital ichthyoses (ARCI) are a skin pathology due to genetic causes characterized by a variable degree of desquamation, accompanied by erythema.” (Frontiers in Pharmacology; 2023-11-09) (penacorona2023advancesinthe pages 1-2)

1.2 Key identifiers

Evidence retrieved here did not include authoritative identifier pages (OMIM/Orphanet/MONDO/MeSH/ICD-10/ICD-11). Therefore, OMIM/Orphanet/MONDO/ICD/MeSH identifiers cannot be reliably asserted from this tool run.

1.3 Common synonyms / alternative names

ARCI is often used as an umbrella for major phenotypes/subtypes including: - Lamellar ichthyosis (LI) - Congenital ichthyosiform erythroderma (CIE) - Harlequin ichthyosis (HI) (most severe) - Minor/related clinical presentations: self-healing collodion baby, bathing suit ichthyosis, and related “collodion baby” neonatal presentations. (diociaiuti2024crosssectionalstudyon pages 2-3, hotz2023mutationalspectrumof pages 1-2, penacorona2023advancesinthe pages 1-2)

2. Etiology

2.1 Disease causal factors

ARCI is a Mendelian (autosomal recessive) genetic disorder caused by biallelic pathogenic variants in multiple genes involved in cornified envelope formation and epidermal lipid processing/transport, leading to skin barrier failure. (hotz2023mutationalspectrumof pages 1-2, penacorona2023advancesinthe pages 1-2)

In a 2024 Italian ARCI cohort study (n=74), the genetic distribution was: TGM1 24.3%, ALOX12B 24.3%, CYP4F22 16.2%, ABCA12 12.2%, ALOXE3 9.5%, NIPAL4 9.5%, and CERS3/PNPLA1/SDR9C7 1.4% each. (Diociaiuti et al., Dermatology; 2024-04; https://doi.org/10.1159/000536366) (diociaiuti2024crosssectionalstudyon pages 1-2)

2.2 Risk factors

• Genetic risk: family history consistent with autosomal recessive inheritance and biallelic pathogenic variants in ARCI genes (see Section 4). (hotz2023mutationalspectrumof pages 1-2, diociaiuti2024crosssectionalstudyon pages 1-2)
• Consanguinity can increase likelihood of autosomal recessive disease: in the 74-patient Italian series, consanguinity was 13/73 families (17.8%). (diociaiuti2024crosssectionalstudyon pages 2-3)

Evidence retrieved here did not include robust environmental, toxin, or lifestyle risk factors for ARCI as a genetic disorder.

2.3 Protective factors

No protective genetic or environmental factors were identified in the retrieved sources.

2.4 Gene–environment interactions

No explicit gene–environment interaction studies were identified in the retrieved sources.

3. Phenotypes

3.1 Core phenotype spectrum and frequencies (recent cohort data)

In a 2024 cross-sectional Italian series (74 genetically confirmed ARCI patients): - Subtype distribution: LI 67.5% (50/74); CIE 24.3% (18/74); HI 2.7% (2/74); other minor ARCI subtypes 5.4% (4/74). (diociaiuti2024crosssectionalstudyon pages 1-2) - Symptom/feature frequencies (reported across cohort): - Pruritus: 86.3% (63/73); mean itch VAS 5.7 ± 2.0 - Pain: 15.1% (11/73); pain VAS 5.2 ± 2.7 - Palmoplantar keratoderma (PPK): 97.3% (72/74) - Fissures: 28.4% (21/74) - Ectropion: 25.7% (19/74) - Eclabium: 14.9% (11/74) These data support high burden of itch and frequent keratoderma with variable ocular/perioral involvement. (diociaiuti2024crosssectionalstudyon pages 2-3)

3.2 Severity measurement in current research/practice

The Italian cohort operationalized severity using a SCORAD-based ichthyosis severity score incorporating body surface involvement, 10 clinical features, and VAS itch and pain. (diociaiuti2024crosssectionalstudyon pages 2-3)

3.3 Genotype-associated phenotypes (selected)

• TGM1 and ABCA12 variants were associated with higher severity, and with alopecia/ectropion/eclabium. (diociaiuti2024crosssectionalstudyon pages 1-2)
• CYP4F22 group had the lowest mean severity score in that cohort. (diociaiuti2024crosssectionalstudyon pages 1-2)
• NIPAL4: association with psoriasis-like lesions, reticulate trunk scale, and striated keratoderma, emphasized as diagnostically relevant. (diociaiuti2024crosssectionalstudyon pages 1-2)

3.4 Quality of life impact

ARCI is described as having symptoms that “drastically affect patients’ quality of life” in a 2023 treatment review. (penacorona2023advancesinthe pages 1-2) A diagnostic-practice study also states that ichthyosis has a negative effect on QoL, citing prior literature. (salo2024genetictestingand pages 1-2)

3.5 Suggested HPO terms (examples; not exhaustive)

• Ichthyosis/scaling: HP:0008064 (Ichthyosis), HP:0000969 (Generalized dry skin)
• Erythroderma: HP:0001043 (Erythroderma)
• Collodion baby: HP:0001012 (Collodion membrane)
• Pruritus: HP:0000989 (Pruritus)
• Palmoplantar keratoderma: HP:0000982 (Palmoplantar keratoderma)
• Ectropion/eclabium: HP:0000656 (Ectropion), HP:0000233 (Eclabium)
• Alopecia: HP:0001596 (Alopecia)

4. Genetic / Molecular Information

4.1 Causal genes and gene functions (current understanding)

ARCI is genetically heterogeneous; recent sources list core causal genes including ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, PNPLA1, SDR9C7, SULT2B1, TGM1. (hotz2023mutationalspectrumof pages 1-2)

A large 2023 ABCA12 cohort paper states: “ARCI is caused by biallelic mutations in ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, PNPLA1, SDR9C7, SULT2B1, and TGM1.” (Genes; 2023-03; https://doi.org/10.3390/genes14030717) (hotz2023mutationalspectrumof pages 1-2)

Gene–phenotype synthesis table

Table: This table summarizes major ARCI genes, their biological roles, subtype associations, and the most informative genotype–phenotype findings from the provided evidence. It emphasizes cohort-based frequencies from Diociaiuti 2024 and the ABCA12-specific correlations from Hotz 2023 for diagnostic and knowledge-base use.

4.2 Pathogenic variants and variant classes

• ABCA12 (2023 cohort, n=64): identified 34 novel ABCA12 mutations, expanding the reported spectrum to 217 mutations and noting possible hotspots c.4541G>A p.(Arg1514His) and c.4139A>G p.(Asn1380Ser). (hotz2023mutationalspectrumof pages 1-2)
• Genotype–phenotype rule (ABCA12): “Loss-of-function mutations on both alleles generally result in harlequin ichthyosis, whereas biallelic missense mutations mainly lead to CIE or LI.” (hotz2023mutationalspectrumof pages 1-2)
• ARCI cohort (Italy, 2024): identified 25 previously undescribed mutations, plus structural events (microduplications in TGM1, microdeletions in CYP4F22 and NIPAL4), illustrating that CNVs are relevant in ARCI diagnostics. (diociaiuti2024crosssectionalstudyon pages 1-2)

4.3 Modifier genes

No validated modifier genes were identified in the retrieved sources.

4.4 Epigenetic information

No ARCI-specific epigenetic mechanisms were identified in the retrieved sources.

4.5 Chromosomal abnormalities

Structural variants (CNVs) were reported in ARCI genes in the 2024 Italian cohort (microduplications/microdeletions), supporting CNV-aware diagnostic pipelines. (diociaiuti2024crosssectionalstudyon pages 1-2)

5. Environmental Information

No consistent non-genetic environmental causes were identified in the retrieved sources, consistent with ARCI being primarily monogenic. Supportive care often includes environmental management (e.g., avoiding overheating due to hypohidrosis/heat intolerance), but specific external causal exposures were not established in these sources. (diociaiuti2024crosssectionalstudyon pages 2-3)

6. Mechanism / Pathophysiology

6.1 Current mechanistic model (upstream→downstream causal chain)

Upstream trigger: biallelic pathogenic variants in genes mediating cornified envelope formation (e.g., TGM1) and/or epidermal lipid transport/metabolism (e.g., ABCA12, lipoxygenases, acylceramide pathway genes). (hotz2023mutationalspectrumof pages 1-2, penacorona2023advancesinthe pages 1-2)

Intermediate biological effects: defective cornification and impaired lipid processing/transport produce an abnormal stratum corneum architecture and permeability barrier; ultrastructural signatures can be gene-informative (e.g., “cholesterol clefts” in TGM1). (diociaiuti2024crosssectionalstudyon pages 1-2)

Clinical manifestations: generalized hyperkeratosis/scaling with variable erythema, fissuring, ectropion/eclabium, pruritus and pain; severe ABCA12 loss-of-function produces harlequin ichthyosis with life-threatening neonatal complications. (diociaiuti2024crosssectionalstudyon pages 2-3, hotz2023mutationalspectrumof pages 1-2)

6.2 Inflammatory/immune involvement (emerging theme)

A 2023 treatment review frames ARCI as having an “inflammatory process” and motivates repurposing biologics based on overlapping immune signatures with psoriasis/atopic dermatitis. (penacorona2023advancesinthe pages 1-2) Clinical trial development targeting IL-17 (secukinumab) and IL-12/23 (ustekinumab) further reflects this mechanistic direction. (NCT03041038 chunk 1, penacorona2023advancesinthe pages 6-7)

6.3 Suggested ontology mappings

• GO Biological Process (examples): keratinization; epidermis development; lipid metabolic process; establishment of skin barrier.
• Cell types (CL): CL:0000312 keratinocyte; (optionally) differentiated keratinocytes/corneocytes.
• Anatomy (UBERON): UBERON:0002097 skin of body; UBERON:0001003 epidermis; stratum corneum.

7. Anatomical Structures Affected

7.1 Organ/system level

Primary organ: skin (epidermis/stratum corneum). (hotz2023mutationalspectrumof pages 1-2, diociaiuti2024crosssectionalstudyon pages 1-2) Secondary/complication-relevant systems include eyes (ectropion), mouth/lips (eclabium), thermoregulation (hypohidrosis/heat intolerance), and infection susceptibility due to barrier compromise. (diociaiuti2024crosssectionalstudyon pages 2-3)

7.2 Tissue/cell level

Key affected tissue: keratinizing stratified squamous epithelium of the epidermis; key cell type: keratinocytes undergoing abnormal terminal differentiation/cornification. (penacorona2023advancesinthe pages 1-2)

7.3 Subcellular/cellular components (suggested)

Cornified envelope structures and lipid-processing/transport organelles (e.g., lamellar body biology) are implicated; ultrastructural abnormalities were used diagnostically (including abnormal lamellar bodies in CERS3/SDR9C7 cases). (diociaiuti2024crosssectionalstudyon pages 1-2)

8. Temporal Development

8.1 Onset

ARCI is typically congenital/early-onset; the “collodion baby” presentation is frequently described across ARCI. (hotz2023mutationalspectrumof pages 1-2, diociaiuti2024crosssectionalstudyon pages 2-3)

8.2 Progression

The 2024 cohort includes ages from infancy to adulthood (0.1–48.8 years), supporting the view that ARCI is generally chronic and lifelong, with variable severity across genotypes. (diociaiuti2024crosssectionalstudyon pages 1-2)

9. Inheritance and Population

9.1 Inheritance

Autosomal recessive inheritance is explicit in the disease definition. (hotz2023mutationalspectrumof pages 1-2)

9.2 Epidemiology (available estimates in retrieved sources)

A 2023 ARCI treatment review cites: - TGM1-related prevalence “at 1:100,000 population” (citing Vahlquist et al., 2008), and - a French epidemiologic study reporting ARCI prevalence 7:1,000,000 (citing Dreyfus et al., 2014). (penacorona2023advancesinthe pages 1-2)

Because these are secondary citations within a review, they should be treated as contextual estimates rather than definitive contemporary global prevalence.

9.3 Population structure: consanguinity

The 2024 Italian cohort reported 17.8% consanguinity (13/73 families). (diociaiuti2024crosssectionalstudyon pages 2-3)

10. Diagnostics

10.1 Clinical diagnosis and differential diagnosis

Diagnosis generally starts from clinical phenotype (LI/CIE/HI spectrum, collodion baby) and is increasingly confirmed by genetic testing. (diociaiuti2024crosssectionalstudyon pages 1-2, salo2024genetictestingand pages 1-2)

10.2 Histopathology/ultrastructure as diagnostic support

The 2024 Italian ARCI study incorporated transmission electron microscopy and reported gene-informative ultrastructural patterns (e.g., “cholesterol clefts” specific for TGM1). (diociaiuti2024crosssectionalstudyon pages 1-2)

10.3 Genetic testing: current real-world approach

A 2024 register-based Finnish study (2000–2020; n=88) describes how diagnostic practice evolved: - “Diagnosis of ichthyosis was confirmed with genetic testing in 33 cases … and with conventional diagnostic methods … in 55 cases.” (Accepted 2024-08-06; https://doi.org/10.1002/mgg3.70000) (salo2024genetictestingand pages 1-2) - “When genetic testing became available, it was offered primarily to patients with severe forms of ichthyosis. During the study period next-generation sequencing became the genetic testing method of choice…” (salo2024genetictestingand pages 1-2)

The 2024 Italian cohort used targeted NGS panels and escalation to clinical exome/other methods, plus qPCR/array CGH for CNV detection and Sanger validation. (diociaiuti2024crosssectionalstudyon pages 2-3)

10.4 Suggested testing algorithm (evidence-aligned)

1) Phenotype-driven evaluation (LI/CIE/HI; collodion baby) with assessment of extracutaneous features to exclude syndromic ichthyoses. (salo2024genetictestingand pages 1-2) 2) NGS multigene panel covering core ARCI genes; consider CNV-aware methods (microarray/MLPA/NGS CNV calling) given reported microdeletions/duplications. (diociaiuti2024crosssectionalstudyon pages 1-2, salo2024genetictestingand pages 1-2) 3) If negative/uncertain: clinical exome or genome sequencing; segregation analysis where needed. (diociaiuti2024crosssectionalstudyon pages 2-3, salo2024genetictestingand pages 1-2)

11. Outcome / Prognosis

The retrieved sources emphasize clinical heterogeneity and mention improved outcomes for severe forms with intensive neonatal care, but they do not provide cohort-level survival curves for ARCI/HI within 2023–2024 primary literature in this run. The Italian cohort supports long-term survivorship into adulthood across subtypes, while HI is highlighted as the most severe and high-burden neonatal condition. (hotz2023mutationalspectrumof pages 1-2, diociaiuti2024crosssectionalstudyon pages 1-2)

12. Treatment

12.1 Current standard management (symptom-directed)

A 2023 review states: “Topical treatments are a first-choice strategy due to their ease of application and cost; however, enteral administration of retinoids offers greater efficacy, although with certain limitations.” (Published 2023-11-09; https://doi.org/10.3389/fphar.2023.1274248) (penacorona2023advancesinthe pages 1-2)

12.2 Systemic retinoids and alternatives

The retrieved evidence establishes systemic retinoids as commonly used in severe inherited ichthyosis management (review-level statement), but does not provide ARCI-specific response rates in 2023–2024 primary trials in this run. (penacorona2023advancesinthe pages 1-2)

12.3 Recent developments and real-world implementations (prioritizing 2023–2024)

(A) Topical isotretinoin (TMB-001) — late-phase repurposing in congenital ichthyosis

Trial: NCT04154293 (Timber Pharmaceuticals; Phase 2; completed). (NCT04154293 chunk 1) - Population: age ≥9 years, genetically confirmed congenital ichthyosis including ARCI-LI and RXLI; 10–90% BSA involvement. (NCT04154293 chunk 1) - Design: randomized, double-blind, vehicle-controlled; 34 participants; 1:1:1 to 0.05% BID, 0.1% BID, or vehicle for 12 weeks. (Study start 2019-12-03; completion 2021-08-30) (NCT04154293 chunk 1) - Primary endpoint: VIIS-50 responder at Week 12 (≥50% reduction in VIIS scaling). (NCT04154293 chunk 1) - Patient-centered secondary endpoints included itch scale change and DLQI. (NCT04154293 chunk 1) URL: https://clinicaltrials.gov/study/NCT04154293 (registry-derived). (NCT04154293 chunk 1)

(B) Topical gene replacement for TGM1-deficient ARCI — KB105 (HSV-1 vector)

Gene/cell therapy review (2024) states: “Gene therapy for the most common type of ichthyosis, lamellar ichthyosis caused by biallelic pathogenic variants in TGM1, is currently being developed using an engineered herpes simplex virus type 1 vector.” (Published online 2024-08-07; https://doi.org/10.1007/s13555-024-01239-4) (koutsoukos2024highlightsofgene pages 1-3)

ClinicalTrials.gov trials: - NCT04047732 (KB105; Phase 1/2; single-group, intra-patient comparison; up to 6 adults; started 2019-08-27; primary completion estimated Oct 2022; completion estimated Mar 2025). Endpoints include safety (TEAEs) and improvement by Investigator’s Global Assessment (IGA), VIIS-L changes, and immunofluorescence measurement of TGM1 in treated skin. (NCT04047732 chunk 1) - NCT05735158 (KB105-02; Phase 2; randomized, placebo-controlled, double-blind intra-subject design; estimated 15; weekly dosing; primary endpoint Composite IGA responder at Week 9; includes systemic retinoid stability/washout rules). (Posted as 2023 trial record; sponsor Krystal Biotech) (NCT05735158 chunk 1) URLs: https://clinicaltrials.gov/study/NCT04047732 and https://clinicaltrials.gov/study/NCT05735158 (registry-derived). (NCT04047732 chunk 1, NCT05735158 chunk 1)

(C) Anti–IL-17A biologic therapy (secukinumab) — mechanism-based repositioning

Trial: NCT03041038 (Northwestern University; Phase 2; completed; results posted 2021). (NCT03041038 chunk 1) - Enrollment: 20 adults. - Dosing: secukinumab 300 mg SC weekly ×5 then monthly vs placebo with crossover/open-label phases. (NCT03041038 chunk 1) - Primary efficacy endpoint: Week 16 reduction in Ichthyosis Area Severity Index (IASI). - Primary safety endpoint: bacterial/fungal mucocutaneous infections through Week 16. (NCT03041038 chunk 1) URL: https://clinicaltrials.gov/study/NCT03041038 (registry-derived). (NCT03041038 chunk 1)

(D) Anti–IL-12/23 (ustekinumab) — trial-scale testing in ichthyoses

A 2023 ARCI repositioning review notes a trial “with 13 participants receiving injections every 8 weeks for one year” aiming to reduce severity and assess infection safety endpoints (review-level summary). (penacorona2023advancesinthe pages 6-7)

12.4 MAXO (Medical Action Ontology) suggestions (examples)

• Topical emollient therapy; keratolytic therapy; systemic retinoid therapy; topical retinoid therapy; biologic anti–IL-17 therapy; biologic anti–IL-12/23 therapy; gene replacement therapy (topical viral vector).

13. Prevention

Primary prevention is genetic (not environmental): carrier testing, prenatal diagnosis, and reproductive counseling are standard concepts for autosomal recessive disorders, but explicit ARCI-specific prevention guideline statements were not retrieved in this run. Genetic counseling is emphasized as enabled by molecular diagnosis in diagnostic-practice literature. (salo2024genetictestingand pages 1-2)

14. Other Species / Natural Disease

The retrieved sources in this run do not provide primary evidence for naturally occurring ARCI-equivalent disease across species. (No species-specific evidence retrieved.)

15. Model Organisms

The retrieved sources in this run mention that gene and cell therapy development for ichthyosis is supported by preclinical work (review-level), but do not provide specific animal model identifiers or detailed phenotype recapitulation for ARCI subtypes in the captured excerpts. (koutsoukos2024highlightsofgene pages 1-3)

Key 2023–2024 highlights (executive summary)

1) Genotype–phenotype resolution is improving with large cohorts: a 2024 single-center ARCI cohort (n=74) provides gene frequencies and statistically associated clinical features and ultrastructural signatures (including itch burden and high prevalence of PPK). (diociaiuti2024crosssectionalstudyon pages 2-3, diociaiuti2024crosssectionalstudyon pages 1-2) 2) ABCA12 genotype–phenotype correlation is reinforced: biallelic loss-of-function → HI; biallelic missense → LI/CIE; 34 novel variants in a 64-patient cohort (2023). (hotz2023mutationalspectrumof pages 1-2) 3) Diagnostics are shifting to NGS as first-tier with increasing use over time and improved classification/prognosis and counseling; conventional methods remain common where testing is unavailable (2024 register study). (salo2024genetictestingand pages 1-2) 4) Therapeutic innovation is moving toward targeted biologics and gene therapy: topical HSV-1–vector TGM1 gene therapy trials are ongoing/expanding; topical isotretinoin and IL-17 blockade have been tested in controlled trial frameworks. (koutsoukos2024highlightsofgene pages 1-3, NCT04047732 chunk 1, NCT05735158 chunk 1, NCT04154293 chunk 1, NCT03041038 chunk 1)

URLs and publication dates for key cited sources

• Diociaiuti et al. “Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses…” Apr 2024. DOI/URL: https://doi.org/10.1159/000536366 (diociaiuti2024crosssectionalstudyon pages 1-2)
• Hotz et al. “Mutational Spectrum of the ABCA12 Gene…” Mar 2023. DOI/URL: https://doi.org/10.3390/genes14030717 (hotz2023mutationalspectrumof pages 1-2)
• Peña‑Corona et al. “Advances in the treatment of autosomal recessive congenital ichthyosis…” Published 2023-11-09. DOI/URL: https://doi.org/10.3389/fphar.2023.1274248 (penacorona2023advancesinthe pages 1-2)
• Salo et al. “Genetic testing and new variants in diagnosis of congenital ichthyoses” Accepted 2024-08-06. DOI/URL: https://doi.org/10.1002/mgg3.70000 (salo2024genetictestingand pages 1-2)
• Koutsoukos & Bilousova “Highlights of Gene and Cell Therapy…” Published online 2024-08-07. DOI/URL: https://doi.org/10.1007/s13555-024-01239-4 (koutsoukos2024highlightsofgene pages 1-3)
• ClinicalTrials.gov: NCT04154293 https://clinicaltrials.gov/study/NCT04154293 (NCT04154293 chunk 1)
• ClinicalTrials.gov: NCT04047732 https://clinicaltrials.gov/study/NCT04047732 (NCT04047732 chunk 1)
• ClinicalTrials.gov: NCT05735158 https://clinicaltrials.gov/study/NCT05735158 (NCT05735158 chunk 1)
• ClinicalTrials.gov: NCT03041038 https://clinicaltrials.gov/study/NCT03041038 (NCT03041038 chunk 1)

References

1. (diociaiuti2024crosssectionalstudyon pages 2-3): Andrea Diociaiuti, Marialuisa Corbeddu, Sabrina Rossi, Elisa Pisaneschi, Claudia Cesario, Angelo Giuseppe Condorelli, Tonia Samela, Simona Giancristoforo, Adriano Angioni, Giovanna Zambruno, Antonio Novelli, Rita Alaggio, Damiano Abeni, and May El Hachem. Cross-sectional study on autosomal recessive congenital ichthyoses: association of genotype with disease severity, phenotypic, and ultrastructural features in 74 italian patients. Dermatology (Basel, Switzerland), 240:397-413, Apr 2024. URL: https://doi.org/10.1159/000536366, doi:10.1159/000536366. This article has 10 citations.

2. (hotz2023mutationalspectrumof pages 1-2): Alrun Hotz, Julia Kopp, Emmanuelle Bourrat, Vinzenz Oji, Kira Süßmuth, Katalin Komlosi, Bakar Bouadjar, Iliana Tantcheva-Poór, Maritta Hellström Pigg, Regina Betz, Kathrin Giehl, Fiona Schedel, Lisa Weibel, Solveig Schulz, Dora Stölzl, Gianluca Tadini, Emine Demiral, Karin Berggard, Andreas Zimmer, Svenja Alter, and Judith Fischer. Mutational spectrum of the abca12 gene and genotype–phenotype correlation in a cohort of 64 patients with autosomal recessive congenital ichthyosis. Genes, 14:717, Mar 2023. URL: https://doi.org/10.3390/genes14030717, doi:10.3390/genes14030717. This article has 27 citations.

3. (penacorona2023advancesinthe pages 1-2): Sheila I. Peña-Corona, Stephany Celeste Gutiérrez-Ruiz, Ma de los Dolores Campos Echeverria, Hernán Cortés, Manuel González-Del Carmen, and Gerardo Leyva-Gómez. Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs. Frontiers in Pharmacology, Nov 2023. URL: https://doi.org/10.3389/fphar.2023.1274248, doi:10.3389/fphar.2023.1274248. This article has 9 citations.

4. (salo2024genetictestingand pages 1-2): Milja Salo, Teija Kimpimäki, Heini Huhtala, and Tanja Saarela. Genetic testing and new variants in diagnosis of congenital ichthyoses. Molecular Genetics & Genomic Medicine, Aug 2024. URL: https://doi.org/10.1002/mgg3.70000, doi:10.1002/mgg3.70000. This article has 1 citations and is from a peer-reviewed journal.

5. (NCT04047732 chunk 1): Topical KB105 Gene Therapy for the Treatment of TGM1-deficient Autosomal Recessive Congenital Ichthyosis (ARCI). Krystal Biotech, Inc.. 2019. ClinicalTrials.gov Identifier: NCT04047732

6. (diociaiuti2024crosssectionalstudyon pages 1-2): Andrea Diociaiuti, Marialuisa Corbeddu, Sabrina Rossi, Elisa Pisaneschi, Claudia Cesario, Angelo Giuseppe Condorelli, Tonia Samela, Simona Giancristoforo, Adriano Angioni, Giovanna Zambruno, Antonio Novelli, Rita Alaggio, Damiano Abeni, and May El Hachem. Cross-sectional study on autosomal recessive congenital ichthyoses: association of genotype with disease severity, phenotypic, and ultrastructural features in 74 italian patients. Dermatology (Basel, Switzerland), 240:397-413, Apr 2024. URL: https://doi.org/10.1159/000536366, doi:10.1159/000536366. This article has 10 citations.

7. (fioretti2024comprehensivemolecularanalysis pages 16-17): Tiziana Fioretti, Fabrizio Martora, Ilaria De Maggio, Adelaide Ambrosio, Carmelo Piscopo, Sabrina Vallone, Felice Amato, Diego Passaro, Fabio Acquaviva, Francesca Gaudiello, Daniela Di Girolamo, Valeria Maiolo, Federica Zarrilli, Speranza Esposito, Giuseppina Vitiello, Luigi Auricchio, Elena Sammarco, Daniele De Brasi, Roberta Petillo, Antonella Gambale, Fabio Cattaneo, Rosario Ammendola, Paola Nappa, and Gabriella Esposito. Comprehensive molecular analysis of disease-related genes as first-tier test for early diagnosis, classification, and management of patients affected by nonsyndromic ichthyosis. Biomedicines, 12:1112, May 2024. URL: https://doi.org/10.3390/biomedicines12051112, doi:10.3390/biomedicines12051112. This article has 2 citations.

8. (diociaiuti2024crosssectionalstudyon pages 17-17): Andrea Diociaiuti, Marialuisa Corbeddu, Sabrina Rossi, Elisa Pisaneschi, Claudia Cesario, Angelo Giuseppe Condorelli, Tonia Samela, Simona Giancristoforo, Adriano Angioni, Giovanna Zambruno, Antonio Novelli, Rita Alaggio, Damiano Abeni, and May El Hachem. Cross-sectional study on autosomal recessive congenital ichthyoses: association of genotype with disease severity, phenotypic, and ultrastructural features in 74 italian patients. Dermatology (Basel, Switzerland), 240:397-413, Apr 2024. URL: https://doi.org/10.1159/000536366, doi:10.1159/000536366. This article has 10 citations.

9. (NCT03041038 chunk 1): Amy Paller. The Efficacy and Safety of Secukinumab in Patients With Ichthyoses. Northwestern University. 2016. ClinicalTrials.gov Identifier: NCT03041038

10. (penacorona2023advancesinthe pages 6-7): Sheila I. Peña-Corona, Stephany Celeste Gutiérrez-Ruiz, Ma de los Dolores Campos Echeverria, Hernán Cortés, Manuel González-Del Carmen, and Gerardo Leyva-Gómez. Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs. Frontiers in Pharmacology, Nov 2023. URL: https://doi.org/10.3389/fphar.2023.1274248, doi:10.3389/fphar.2023.1274248. This article has 9 citations.

11. (NCT04154293 chunk 1): A Vehicle Controlled Study to Evaluate Safety and Efficacy of Topical TMB-001 for Treatment of Congenital Ichthyosis. Timber Pharmaceuticals Inc.. 2019. ClinicalTrials.gov Identifier: NCT04154293

12. (koutsoukos2024highlightsofgene pages 1-3): Stefanos A. Koutsoukos and Ganna Bilousova. Highlights of gene and cell therapy for epidermolysis bullosa and ichthyosis. Dermatology and Therapy, 14:2379-2392, Aug 2024. URL: https://doi.org/10.1007/s13555-024-01239-4, doi:10.1007/s13555-024-01239-4. This article has 5 citations.

13. (NCT05735158 chunk 1): Topical KB105 for the Treatment of TGM1-deficient Autosomal Recessive Congenital Ichthyosis (ARCI). Krystal Biotech, Inc.. 2023. ClinicalTrials.gov Identifier: NCT05735158