9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
10 citations
,
January 2011 in “Annals of Dermatology” This case study describes a unique instance of warty dyskeratoma involving two adjacent hair follicles within one lesion.
December 2013 in “International Journal of Dermatology” The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
14 citations
,
January 1995 in “Archives of Physical Medicine and Rehabilitation” This case report describes an individual who developed both localized hypertrichosis and ipsilateral dyshidrotic dermatitis following multiple fractures and cast application, with symptom resolution similar to when these conditions occur independently.
23 citations
,
November 2001 in “Archives of Dermatology” This review discusses recent advances in the genetic understanding of inherited hair and nail disorders and reports no new clinical results.
7 citations
,
August 2017 in “European journal of endocrinology” This study suggests that mutations in exon 10 of the POC1A gene may be linked to a distinct clinical condition characterized by extreme insulin resistance and short stature, differing from SOFT syndrome.
44 citations
,
May 1980 in “Archives of Dermatology” This case study discusses a patient with persistent 20-nail dystrophy following alopecia areata, suggesting that "20-nail dystrophy" describes a condition with multiple potential causes.
9 citations
,
January 2007 in “Gynecological Endocrinology” This case report presents the first known instance of combined polycystic ovary syndrome and autoimmune polyglandular syndrome type 2 in a patient, exploring potential mechanisms for their interrelation.
5 citations
,
January 2017 in “Arquivos Brasileiros de Oftalmologia” This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.
22 citations
,
January 1999 in “Dermatology” This case report describes a rare instance of double-lined frontoparietal scleroderma en coup de sabre and suggests a genetic basis involving postzygotic mosaicism.
3 citations
,
December 2013 in “American Journal of Dermatopathology” This case report describes a unique lesion in a 10-month-old girl, characterized by increased eccrine glands and hair follicles, leading to the proposed term "hybrid eccrine gland and hair follicle hamartoma".
February 2026 in “Journal of Chittagong Medical College Teachers Association” This case report highlights a 17-year-old female with Kartagener's syndrome and ectodermal anomalies, such as alopecia and dental issues, suggesting a possible novel syndromic variant, with genetic testing recommended to distinguish it from a dual diagnosis.
4 citations
,
January 2009 in “PubMed” In this study, researchers identified an autosomal dominant mutation (E402K) in exon 7 of the KRT86 gene as a cause of Monilethrix in a large family from Turkey.
July 2025 in “Clinical Case Reports” In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.
July 2025 in “Clinical Dermatology Review” In this case report, researchers observed multiple trichofolliculomas in family members, noting this as a rare manifestation of typically singular hair follicle hamartomas.
June 2024 in “Annals of Medicine and Surgery” This case report highlights the rare co-occurrence of Pili Annulati and Trichorrhexis Nodosa in a Syrian woman, underlining the need for further research into their relationship and treatment.
8 citations
,
April 2016 in “Anais Brasileiros De Dermatologia” This study found that males with androgenetic alopecia had a significantly lower 2D:4D digit length ratio in the right hand compared to healthy controls, which may indicate prenatal androgen exposure.
13 citations
,
January 2001 in “Pediatric dermatology” This study reports pseudopili annulati in a dark-haired Chinese girl, identifying the unique appearance and structural characteristics of her hair without finding abnormalities in the cuticle and cortex.
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.
11 citations
,
July 2010 in “European Journal of Dermatology” In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.
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.
4 citations
,
October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
8 citations
,
March 2015 in “Neuromuscular Disorders” This study found that adult patients with Myotonic Dystrophy type 1 exhibited a higher prevalence of various morphofunctional, inflammatory, and proliferative skin disorders compared to healthy controls.
11 citations
,
January 2020 in “BMC pediatrics” This case report identified two new SLC39A4 mutations in twin patients with acrodermatitis enteropathica, suggesting that different mutations in this gene may lead to varying clinical manifestations of the disorder.
June 2026 in “Skin Appendage Disorders” This study suggests that pili annulati is likely more common than traditionally thought, highlighting the importance of recognizing its characteristic clinical and trichoscopic features for accurate diagnosis.
19 citations
,
April 1995 in “Clinical Genetics” This report describes two siblings with a new familial association of loose anagen syndrome and ocular coloboma, despite unaffected parents and no family history.
11 citations
,
January 2021 in “British Journal of Dermatology” This report describes a new case of syndromic ichthyosis caused by compound heterozygous mutations in AP1B1, detailing the associated clinical features and molecular consequences in the patient.
1 citations
,
April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
3 citations
,
January 2018 in “Skin Appendage Disorders” This case report describes two instances of habit tic nail deformities associated with alopecia areata.
1 citations
,
January 2013 in “Indian journal of dermatology, venereology, and leprology” A girl inherited excessive body hair from her mother and grandmother.