17 citations
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January 1991 in “Acta Dermato Venereologica” This report describes a Danish family with autosomal dominant hypotrichosis, where affected members experienced gradual diffuse hair loss leading to near-total scalp alopecia by ages 14-21.
April 1977 in “Pediatric Research” 6 citations
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July 2021 in “Frontiers in Genetics” This study identified a new heterozygous missense variant in CST6 associated with autosomal dominant keratosis follicularis spinulosa decalvans in an Austrian family, affecting epidermal differentiation and hair formation.
203 citations
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November 1984 in “Journal of the American Academy of Dermatology” This study presents evidence suggesting that androgenetic alopecia is most likely inherited through a polygenic model, challenging the traditional view that it is caused by a simple Mendelian autosomal dominant gene.
4 citations
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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.
71 citations
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February 2012 in “The American Journal of Human Genetics” This study found that a heterozygous missense mutation in ATR is associated with a hereditary cancer syndrome, manifested by oropharyngeal cancer and other anomalies, in an autosomal-dominant inheritance pattern across a five-generation family.
55 citations
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October 1992 in “Archives of Dermatology” In this study, researchers observed that loose anagen hair syndrome is an autosomal dominant disorder characterized by abnormal hair follicle structure and premature keratinization, possibly due to signaling and desmosomal component disturbances.
42 citations
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September 2000 in “British Journal of Dermatology” This report describes two children with congenital hypotrichosis and found their short hair is due to a shortened anagen phase, with the condition resolving spontaneously during puberty.
32 citations
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May 1986 in “Archives of Dermatology” This case study suggests that atrichia with papular lesions associated with common variable immunodeficiency may follow an autosomal-dominant inheritance pattern, differing from previous reports of autosomal recessive inheritance.
30 citations
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May 2005 in “Pediatric dermatology” This report reviews familial cases of aplasia cutis of the scalp, noting large irregular defects at the vertex or anterior along the sagittal suture in six families.
19 citations
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October 1996 in “International Journal of Dermatology” This study concluded that pseudopelade is an autosomal dominant condition, distinct from other forms of alopecia, characterized by atrophic hair follicle loss and notable familial association.
11 citations
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January 2013 in “International Journal of Trichology” This report discusses a case of short anagen syndrome in a 3-year-old Hispanic girl and emphasizes its differentiation from loose anagen syndrome, without presenting new empirical findings.
8 citations
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December 2020 in “Scientific reports” This study examined the genetic basis for the curly hair trait in Mangalitza pigs, finding two specific genetic variants that contribute to this distinctive phenotype through autosomal dominant inheritance.
8 citations
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July 1986 in “International Journal of Dermatology” This article discusses eruptive vellus hair cysts, detailing their appearance, distribution, histology, and potential spontaneous resolution, but reports no new clinical findings on treatment.
6 citations
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August 1993 in “Archives of Dermatology” This article describes the first documented case of acquired uncombable hair syndrome in a 39-year-old woman, contributing to the understanding of this rare condition.
5 citations
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September 1986 in “Pediatric Dermatology” This study reported a previously undescribed form of hereditary hypotrichosis in a family, characterized by childhood-onset hair loss, morphea, and probable autosomal dominant inheritance.
2 citations
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August 1993 in “Archives of Dermatology” This case report documents the first instance of acquired uncombable hair syndrome in a 39-year-old woman, characterized by diffuse alopecia and minimal upper lip hirsutism.
August 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” This study characterizes the secondary hair follicles in the Lanyu pig, an indigenous breed sharing similarities with human vellus hair follicles, suggesting its relevance as a model for researching hair follicle-mediated skin regeneration and enhancing translation to human wound healing.
December 2024 in “Brazilian Journal of Health Review” This article reviews the general, pathophysiological, diagnostic, and therapeutic aspects of alopecia frontal fibrosante, highlighting its irreversible nature and the importance of early diagnosis, but it reports no new clinical results.
March 2024 in “Bioscientia medicina” In this study, rs6152 was not significantly associated with androgenetic alopecia in the Indonesian population, but familial history and factors like age, gender, hypertension, and BMI were strongly linked to AGA risk.
September 2022 in “Indian Journal of Paediatric Dermatology” This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.
1 citations
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June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
This case report describes a rare instance of familial congenital atrichia in a 16-year-old girl, possibly involving a genetic component, as both her parents exhibit similar clinical features.
2 citations
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November 2002 in “PubMed” This study found that most Asian patients with androgenetic alopecia in Singapore sought treatment in their thirties primarily for cosmetic reasons, with a strong familial tendency indicating an autosomal dominant inheritance pattern.
November 2025 in “International Journal of Clinical Obstetrics and Gynaecology” This study found evidence for a genetic basis of polycystic ovary syndrome, indicating an autosomal dominant pattern of inheritance among first-degree relatives.
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.
5 citations
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June 2014 in “Der Hautarzt” This review discusses genetic causes and classification of rare, monogenic forms of alopecia and highlights the role of molecular genetic research in understanding hair loss mechanisms but reports no new clinical results.
1 citations
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January 2013 in “Indian journal of dermatology, venereology, and leprology” A girl inherited excessive body hair from her mother and grandmother.
97 citations
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March 2006 in “Journal of Investigative Dermatology” This study identified four novel DSG4 mutations associated with monilethrix in 12 Jewish families, suggesting a recessive inheritance pattern and broader prevalence of DSG4-related hair disorders than previously recognized.
49 citations
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April 2007 in “Pediatric Dermatology” This study describes a family with uncombable hair syndrome, suggesting autosomal dominant inheritance, and reports that oral biotin improved hair appearance in two young patients.