197 citations
,
June 2009 in “American journal of human genetics” This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.
28 citations
,
February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” This article reviews phenotypic variability linked to WNT10A nonsense mutations and does not present new research findings.
1 citations
,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
5 citations
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December 2017 in “The Journal of Dermatology” This report describes a unique case of Schöpf–Schulz–Passarge syndrome in a Taiwanese man linked to a previously unreported homozygous WNT 10A mutation, underscoring its role in ectodermal dysplasia.
89 citations
,
September 2010 in “Annual Review of Genomics and Human Genetics” This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.
30 citations
,
June 2021 in “British Journal of Dermatology” This review discusses the association between WNT10A gene variants and various ectodermal disorders, highlighting their clinical relevance in dermatology and dentistry, but reports no new findings.
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
February 2026 in “Bioimpacts” This review discusses advancements and challenges in using 3D bioprinting for diabetic foot ulcer treatments, highlighting potential improvements and existing limitations in replicating skin architecture and clinical application.
February 2026 in “Orphanet Journal of Rare Diseases” This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This index of Harper's Textbook of Pediatric Dermatology, Fourth Edition, provides no clinical results or new findings.
June 2026 in “Frontiers in Immunology” This review discusses the role of epithelial–mesenchymal transition in cutaneous fibrotic disorders and highlights potential molecular targets for therapy, but reports no new clinical results.
100 citations
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July 2018 in “Journal of The American Academy of Dermatology” This study found that alopecia areata is linked with a higher prevalence of systemic and psychiatric diseases, suggesting that physicians should monitor for these potential comorbidities.
April 2017 in “Journal of Investigative Dermatology” This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.
19 citations
,
January 2020 in “Journal of Biophotonics” This study found that using a PEG-400/oleic acid mixture as an optical clearing agent enhanced the detection depth of particles in skin without causing dehydration, based on tests in rats and further testing in vivo.
17 citations
,
June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.
7 citations
,
October 2022 in “Development” This study demonstrated that Wnt5a can serve as an orienting signal for mouse skin's planar cell polarity but its overexpression disrupts hair follicle orientation, which can be rescued by modifying Fzd6 levels.
April 2026 in “International Journal of Molecular Sciences” This review synthesizes recent research on how Wnt signaling regulates skin, hair follicle, and nail regeneration, highlighting its compartment-specific roles and discussing targeted strategies for treating conditions like alopecia, chronic wounds, and skin cancer.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
January 2021 in “Skin Appendage Disorders” This study found that mutant Cx43 impairs fibroblast function during wound healing and reduces hair follicle cell proliferation, likely contributing to hair growth defects in ODDD patients.
6 citations
,
January 2016 in “JAMA Dermatology” This article discusses the presence of dirty dots as a normal trichoscopic finding in children, noting they are not observed in adults or other age groups, and reports no new results.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
1 citations
,
August 2016 in “Dermatology - Open Journal” In this study, the researchers found that optic atrophy 1 (OPA1) is involved in the transition between filamentous and rounded mitochondria in hair follicle dermal papilla cells, potentially influencing cellular energy dynamics.
1 citations
,
April 2025 in “Clinical Cosmetic and Investigational Dermatology” This report describes a rare case of porokeratotic eccrine ostial and dermal duct nevus in a 64-year-old woman, successfully treated with CO₂ laser, highlighting its potential occurrence in older adults.
15 citations
,
June 2019 in “Biochemical Journal” This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.
7 citations
,
January 2020 in “Dermatology online journal” In this case report, adult-onset porokeratotic eccrine ostial and dermal duct nevus improved with topical tazarotene treatment, as evidenced by dermatoscopic images.
8 citations
,
August 2014 in “Biochemical and Biophysical Research Communications” The study found that over-expressing ornithine decarboxylase in the outer root sheath of the hair follicle in mice increases UVB-induced tumor growth and invasive squamous cell carcinoma compared to inter-follicular epidermal keratinocytes.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.
September 2024 in “Pigment Cell & Melanoma Research” This study found that mitochondrial fusion regulator Opa1 is crucial for maintaining melanocyte stem cells during the hair follicle cycle in mice, with Opa1 deficiency leading to impaired SCF-KIT signaling, reduced melanocyte populations, and early hair graying.
50 citations
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January 1986