75 citations
,
September 1985 in “Archives of dermatology” This report of ichthyosis follicularis in two boys discusses the challenges of distinguishing it from similar disorders, noting its rarity and unclear inheritance pattern without providing new clinical results.
September 2023 in “UCrea (University of Cantabria)” In this study, researchers found that mouse digits without nails could not regenerate after amputation, highlighting the necessity of nails for fingertip regeneration and suggesting a potential role for the Lmx1b gene in this process.
April 2024 in “Diagnostics” In this study, researchers found that 68% of orthodontic patients with oligodontia displayed hair disorders, such as hypotrichosis and androgenetic alopecia, highlighting trichoscopy and trichogram as valuable diagnostic tools to distinguish between isolated and syndromic forms of the condition.
5 citations
,
January 2017 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” This review reports two new cases of porokeratotic eccrine and hair follicle nevus and analyzes all known cases in the Spanish and English literature, suggesting a link to a GJB2 gene mutation.
January 2026 in “Indian Journal of Ophthalmology - Case Reports” In this study, a rare case of a trichilemmal cyst in a 6-year-old's upper eyelid was observed; it was identified through histopathological examination after excision, highlighting the importance of considering trichilemmal cysts in atypical pediatric eyelid swellings.
28 citations
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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.
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.
5 citations
,
August 2014 in “Archivos Argentinos de Pediatria” This report presents a 6-year-old girl with Turner syndrome, suggesting a possible association between Turner syndrome, psoriasis, alopecia areata, and trachyonychia.
21 citations
,
August 1991 in “Journal of the American Academy of Dermatology” This case report presents the first known instance of unilateral erythromelanosis follicularis faciei et colli in a white girl, contributing to the limited documented cases of this rare condition.
31 citations
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May 2009 in “Bijdragen tot de Dierkunde”
33 citations
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March 2006 in “Seminars in cutaneous medicine and surgery” This article illustrates various hair shaft defects and suggests that dermatologists can diagnose most of them using light microscopy and polarization without needing advanced imaging techniques.
2 citations
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September 2015 in “Türk pediatri arşivi : İstanbul çocuk kliniği dergisi” This case study reports on a 23-month-old child who developed onychomadesis after valproic acid treatment, which resolved on its own without further intervention.
249 citations
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May 2003 in “Developmental Biology” Ectodysplasin-A1 is crucial for developing hair, teeth, and glands.
55 citations
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April 2008 in “Clinical Genetics” This report identifies a novel mutation in the ST14 gene in a female with autosomal recessive ichthyosis with hypotrichosis, highlighting similar features to previously reported cases.
30 citations
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June 2014 in “Seminars in Immunology” This review discusses recent advances in understanding the Eda pathway's role in developmental biology, and highlights ongoing trials and areas for further research, including Eda's potential involvement in cell processes and disease.
October 2014 in “Microscopy” This study found that using ionic liquid for specimen preparation allowed for observation of dermal papilla cells and their cilia in near-living conditions, reducing damage typically caused by conventional preparation methods.
1 citations
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September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.
32 citations
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January 1971 in “Annals of Internal Medicine” This study observed that severe bronchitis may occur in individuals with anhidrotic ectodermal dysplasia when exposed to a dusty environment, potentially due to abnormalities in the bronchial mucosa.
2 citations
,
January 1989 This article discusses the history and understanding of Tay syndrome, recognizing it as a distinct condition related to ichthyotic erythroderma, mental retardation, and brittle hair but reports no new clinical results.
5 citations
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June 2008 in “British Journal of Dermatology” 5 citations
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January 2009 in “International Journal of Trichology” This case report documents a rare association between atopic eczema and pili annulati in two siblings from north India, an unusual finding not previously reported in the literature.
October 2025 in “Indian Journal of Paediatric Dermatology” In this case report, a 6-year-old boy with Netherton syndrome was diagnosed using trichoscopy, which revealed characteristic hair shaft abnormalities such as bamboo, golf tee, and matchstick hairs.
4 citations
,
October 2015 in “JAAD Case Reports” This case report describes a patient experiencing nail nonadherence due to sterile matrix scarring associated with valproic acid use, and suggests nail bed excision with sterile matrix grafting as a potential surgical solution.
1 citations
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January 2015 in “International journal of trichology (Print)” A single long white eyelash is a rare but benign condition.
9 citations
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March 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports that the maintenance and morphogenesis of skin appendages rely on both the dose and duration of ectodysplasin signaling.
2 citations
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September 2004 in “Experimental Dermatology” This review discusses how dysfunction in keratinocyte adhesion affects skin integrity and conditions like alopecia and keratoderma, highlighting the roles of intercellular junctions, and reports no new clinical results.
80 citations
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March 2004 in “Neuropediatrics” This article presents an update on a family with Coats' plus disorder, documenting additional symptoms and two new similar cases, and reviews literature suggesting a link to dyskeratosis congenita for potential molecular insights.
January 2025 in “Case Reports in Genetics” The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
1 citations
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April 2023 in “Frontiers in Genetics” This report on individuals with AEBP1-related classical-like EDS confirmed previous findings and identified hair loss as a potential characteristic feature of this rare condition for the first time. Additionally, cardiovascular complications observed in some individuals suggest that cardiovascular monitoring may be necessary.