26 citations
,
September 1969 in “The American journal of medicine” This article reviews Cronkhite-Canada syndrome as a distinct condition from Peutz-Jeghers syndrome and familial polyposis, with cases showing gastrointestinal polyposis, skin, hair, nail abnormalities, and hypoproteinemia.
25 citations
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September 2005 in “Journal of the American Academy of Dermatology” This study reported that Rapp-Hodgkin syndrome, AEC syndrome, and EEC syndrome are likely part of a single genetic disorder spectrum linked to mutations in the TP63 gene.
25 citations
,
January 2004 in “The International Journal of Developmental Biology” This review discusses the molecular mechanisms involved in hair and epidermal development, highlighting how studies on human inherited diseases and mouse models have deepened our understanding; it reports no new results.
23 citations
,
January 1964 in “Archives of Dermatology” This report describes a child with ulerythema ophryogenes marked by eyebrow hair absence and progressive skin atrophy, whose condition did not improve despite elevated vitamin A levels via injections.
21 citations
,
January 2005 in “Skinmed” This article reviews the structural similarities and common disorders of hair and nails, highlighting their joint involvement in congenital and acquired conditions, but it reports no new clinical results.
17 citations
,
November 2012 in “Journal of Investigative Dermatology” This paper reviews the genetic aspects of hair disorders and suggests that understanding these genes could advance treatment and diagnosis; it reports no new experimental findings.
15 citations
,
September 2007 in “Cell & tissue research/Cell and tissue research” This study suggests that human embryonic stem cells may improve skin graft quality and functionality by enabling the identification and amplification of early ectodermal progenitors, pending confirmation from preclinical studies.
13 citations
,
July 2016 in “Indian Journal of Dermatology” This report describes two Saudi brothers with dermatopathia pigmentosa reticularis who exhibited normal hair shafts despite their condition.
12 citations
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January 2023 in “Indian Dermatology Online Journal” This review discusses the diagnostic and therapeutic challenges of hair shaft disorders and suggests diagnostic tools like trichoscopy and light microscopy, but reports no new clinical results.
12 citations
,
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.
12 citations
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January 2013 in “Indian dermatology online journal” This case report details a 21-year-old woman with dermatopathia pigmentosa reticularis, presenting with generalized reticulate hyperpigmentation, diffuse noncicatricial alopecia, onychodystrophy, palmoplantar keratoderma, and poorly developed dermatoglyphics.
12 citations
,
February 2008 in “Journal of The American Academy of Dermatology” This review discusses recent advances in molecular genetics and their impact on the accuracy and understanding of diagnosing inherited skin diseases but reports no new results.
11 citations
,
December 2013 in “Clinical and experimental dermatology” This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.
11 citations
,
May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
11 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” In this case report, the authors suggest an association between prolonged finasteride use and anterior subcapsular cataracts, as observed in a 43-year-old man, marking the first reported instance.
9 citations
,
March 2022 in “Military Medical Research” This study developed a method to convert fibroblasts into sweat gland-like cells, suggesting potential for regenerating damaged skin and restoring sweat gland function.
9 citations
,
January 2017 in “Journal of the Egyptian Women's Dermatologic Society (Print)” This article discusses the use of dermoscopy for diagnosing hair and scalp disorders in children and reports no new clinical results.
9 citations
,
April 1985 in “Archives of Dermatology” This case report describes a 7-year-old boy with Netherton's syndrome, highlighting the identification of the tricorrhexis invaginata hair defect using a photographically illustrated scalp biopsy, which had not been visually documented before.
8 citations
,
March 2025 in “Developmental Biology” Integumentary organs adapt and evolve for survival, with potential uses in regenerative medicine.
7 citations
,
November 2007 in “Differentiation” This study found that NF-κB's p65/RelA subunit can directly activate hair keratin genes, suggesting a new role in hair formation that may inform the understanding of ectodermal dysplasias.
7 citations
,
April 2000 in “Mammalian Genome” This study identified a new mutation in SELH/Bc mice causing distinctive whisker and body hair abnormalities, mapped near the type I keratin cluster on chromosome 11.
6 citations
,
February 2012 in “American Journal of Animal and Veterinary Sciences” This review summarizes major growth factors that promote hair follicle growth, but it reports no new experimental findings.
6 citations
,
December 2004 in “Anais Brasileiros de Dermatologia” This study describes a family with loose anagen hair syndrome associated with macular dystrophy, suggesting this combination may represent a new disease entity among ectodermal dysplasias.
6 citations
,
June 1993 in “Veterinary Dermatology” This case report describes a female Rottweiler with generalized congenital hypotrichosis, where most skin biopsies showed a complete absence of follicular development, marking only the second documented case of this genodermatosis in female dogs.
6 citations
,
August 1991 in “Pediatric Clinics of North America” This article reviews common scalp and hair disorders in children and adolescents and outlines diagnostic approaches, but reports no new clinical findings.
5 citations
,
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.
5 citations
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June 1993 in “Pediatric dermatology” Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
4 citations
,
December 2021 in “Journal of clinical laboratory analysis” This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.
4 citations
,
April 2019 in “JAAD Case Reports” This article reviews the clinical features of dermatopathia pigmentosa reticularis, highlighting its characteristic triad of symptoms, but provides no new research results.
4 citations
,
December 2013 in “The Journal of Dermatology” This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.