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.
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.
November 2022 in “Journal of the Endocrine Society” This case study suggests that genetic susceptibility to PCOS and rare syndromes, such as Trichorhinophalangeal syndrome Type 1, should be considered in young men with unexplained hyperandrogenism.
December 2025 in “Clinical Case Reports” In this study, researchers reported that dermoscopic examination of eyebrow hairs can help in the early diagnosis of Netherton syndrome in children by detecting trichorrhexis invaginata, facilitating prompt counseling and care while awaiting genetic test results.
August 2025 in “Dermatopathology” This study identified 96 cases of pilomatricomas linked to genetic syndromes, including a novel association with Apert syndrome, highlighting that these tumors often manifest as the first indication of underlying conditions in pediatric patients.
53 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This article reviews extensive genetic polymorphisms in the keratin-associated proteins of human hair, indicating complexity but reporting no new clinical results and calls for further research on their potential impact on hair structure.
39 citations
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February 2011 in “American Journal of Dermatopathology” This study shows for the first time that onychomatricoma can recapitulate the entire nail unit with differentiation toward the nail bed and isthmus, identifying new histopathological and immunohistochemical features.
6 citations
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October 2009 in “Veterinary Dermatology” This study identified various cell types in the canine claw, showing complex mechanisms of cellular differentiation similar to mammalian hair and human nails.
75 citations
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October 2010 in “Mammalian genome” In this study, specific genetic polymorphisms in the KRT71 gene were associated with hairless and curly phenotypes in Sphynx and Devon Rex cats.
32 citations
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January 2000 in “Human Heredity” This study found that the mutation Glu402Lys in keratin hHb6 may be associated with monilethrix, and homozygous patients in a consanguineous family exhibited more severe symptoms.
10 citations
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November 2008 in “Veterinary Dermatology” In this study, the misshaped and hairy ear phenotype in mutant mice was linked to mis-expression of certain Hoxc genes due to a chromosomal inversion.
1 citations
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December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
53 citations
,
January 2011 in “Diabetes” The study found that severe insulin resistance and premature diabetes are common in patients with PCNT genetic defects, primarily affecting those over four years old, while not impacting early insulin signaling in adipocytes.
17 citations
,
July 1984 in “British journal of dermatology/British journal of dermatology, Supplement” This study describes a distinctive form of ichthyosis characterized by abnormal epidermal differentiation mainly within hair follicles in four patients with congenital follicular hyperkeratosis.
September 2024 in “Clinical Case Reports” This case report highlights a rare presentation of APS-1 in a 28-year-old Pakistani male with cardiovascular and pulmonary symptoms, illustrating the importance of early recognition and multidisciplinary management for improved patient outcomes.
2 citations
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May 1991 in “PubMed” This article reviews naevus comedonicus, highlighting potential treatments like retinoic acid application and surgical intervention, but reports no new clinical findings.
This abstract compiles a list of medical syndromes and conditions related to tongue abnormalities and other systemic features but reports no new research findings.
23 citations
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July 1994 in “Journal of Dermatological Science” This study found that the twisted hair shafts characteristic of pili torti may result from uneven outer root sheath cell development, leading to irregular hair shaft modeling and twisting.
73 citations
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June 2010 in “PLoS Genetics” This study identified that a deficiency in the palmitoyl transferase enzyme, due to a mutation in the Zdhhc13 gene, led to severe physiological abnormalities in mice, including skin, bone, and systemic amyloid issues.
8 citations
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June 2012 in “Journal of Crohn s and Colitis” This case report documents a 33-year-old male with autoimmune polyglandular syndrome type 2, including diabetes mellitus type 1, Hashimoto thyroiditis, adrenal insufficiency, and Crohn's disease, highlighting the ongoing difficulties in managing multiple autoimmune conditions.
July 1997 in “Clinical Orthopaedics and Related Research” This case report describes a 26-year-old woman with a giant cell tumor in the left proximal fibula, presenting atypically alongside pseudopseudohypoparathyroidism features, which remain rare in such contexts.
January 2019 in “Global Dermatology” This review discusses the genetic disorder, monilethrix, characterized by fragile, brittle hair and its inheritance patterns, and reports no new clinical results.
29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.
February 2025 in “Animals” In this review, researchers examined the molecular diversity and expression patterns of major skin appendage proteins, like keratins and EDC proteins, in tetrapods, highlighting recent findings in reptiles and birds and identifying knowledge gaps for future research.
March 2003 in “中華皮膚科醫學雜誌” This report describes a patient with trichothiodystrophy exhibiting both specific hair abnormalities and developmental delay, contributing to the understanding of this rare disorder's clinical presentation.
January 2024 in “Skin Appendage Disorders” July 2026 in “Indian Journal of Dermatology Venereology and Leprology” 9 citations
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December 2012 in “Indian Journal of Dermatology Venereology and Leprology” This study reports a rare case of a 40-year-old woman with multiple calcified trichilemmal cysts, associated with alopecia universalis and suggesting a potential genetic link.
November 2021 in “CRC Press eBooks” This article reviews various congenital and acquired hair shaft disorders, examining their characteristics and potential links to wider health conditions, but does not present any new clinical results.
6 citations
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March 2017 in “Journal of the European Academy of Dermatology and Venereology” This article reviews genetic mutations linked to monilethrix, a hereditary hair disorder, and reports no new clinical findings on the condition's variability in symptoms and severity.