1 citations
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October 2019 in “International Journal of Dermatology and Venereology” This review discusses the role of zebrafish as a model for studying human hereditary pigmentary disorders and reports no new experimental results, emphasizing their genetic similarities and the genetic tools available.
September 2017 in “PubMed” In this case report, a Danish family with monilethrix showed varying symptoms, diagnosed via dermatoscopy, microscopy, and gene sequencing. The study highlights that while no cure exists, oral minoxidil shows promise in a single case, and reducing hair trauma remains key for management.
1 citations
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June 2025 in “Pigment Cell & Melanoma Research” This literature review reports that mutations in the SASH1 gene are linked to different pigmentation disorders, including dyschromatosis universalis hereditaria and lentiginosis. It further suggests SASH1's significant role in melanocyte processes and its potential as a target for developing treatments for these conditions.
January 2017 in “British journal of dermatology/British journal of dermatology, Supplement”
November 2011 in “Pediatric dermatology” This case report and literature review discusses Marie-Unna hereditary hypotrichosis and presents no new clinical results.
151 citations
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June 2010 in “Endocrinology and metabolism clinics of North America” This article compares two rare genetic diseases, vitamin D-dependent rickets type 1 and type 2, focusing on their similar presentations of hypocalcemia and rickets in infancy, but reports no new clinical results.
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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January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
1 citations
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May 2007 in “PubMed” This case study of a subfertile couple highlighted the importance of considering haemochromatosis, particularly involving the C282Y mutation of the HFE gene, in patients with endocrine disorders linked to hypogonadism.
107 citations
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March 2014 in “BoneKEy Reports” This abstract reviews hereditary vitamin D-resistant rickets, a rare genetic condition causing severe early childhood rickets, and reports no new results; effective treatment typically requires high doses of calcium to address hypocalcemia and secondary hyperparathyroidism.
12 citations
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October 1996 in “Dermatologic clinics” This review outlines the diagnostic criteria for congenital and hereditary hair shaft abnormalities and emphasizes the need to understand the weathering process in assessing these disorders.
1 citations
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January 1967 in “The BMJ” The document concludes that while some hair and scalp disorders can be treated, hair loss from destroyed follicles is permanent, and damaged hair can only regrow naturally.
March 2023 in “International journal of trichology” This review discusses genetic conditions linked to complete scalp alopecia in children, identifying six genetic causes, but reports no new clinical results.
This chapter reviews various fungal skin diseases affecting cattle but does not report new research findings; it focuses on rare, inherited, and congenital conditions like follicular dysplasia and cutaneous asthenia.
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.
6 citations
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February 1974 in “The BMJ” The document concludes that scalp disorders can be treated with hair washing, specific shampoos, medications, and sometimes surgery or hair transplants, but hereditary baldness is untreatable.
December 2021 in “Folia veterinaria” This review provides an overview of identified gene variants responsible for congenital skin diseases in dogs and highlights the role of genetic testing in veterinary diagnostics and breeding.
29 citations
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March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
12 citations
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January 2013 in “Indian Journal of Dermatology” This case report on a 13-year-old boy with monilethrix observed slight improvement after a two-month trial of oral N-acetyl cysteine, but overall hair density did not improve further.
4 citations
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January 2014 in “International Journal of Trichology” This report presents a 12-year-old male with symptoms indicative of Marie-Unna type hereditary hypotrichosis, characterized by a specific pattern of hair loss evolving with age.
This study utilized polarized light microscopy to examine hair shafts in ten children with rare genetic disorders, such as Netherton syndrome and ectodermal dysplasia, providing valuable diagnostic insights into hair thickness, composition, and structural irregularities associated with these conditions.
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
276 citations
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January 2005 in “International review of cytology” More research is needed to understand how hair keratins work and their role in hair disorders.
3 citations
,
March 2023 in “International journal of molecular sciences” This review discusses the patterns and regulatory mechanisms of keratin expression in various biological conditions and reports no new experimental results.
3 citations
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December 2003 in “Micron” This review discusses recent advancements in hair loss treatments, focusing on androgenetic alopecia, alopecia areata, frontal fibrosing alopecia, and hair transplant technologies, without presenting new research findings.
78 citations
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May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
17 citations
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June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This study found that genes in the human keratin-associated protein 1 family may have evolved mainly through gene duplication of cysteine-repeat motifs.
191 citations
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December 2003 in “Journal of Investigative Dermatology” Male pattern baldness is largely genetic, linked to the androgen receptor gene, and may relate to certain health issues.
46 citations
,
September 2010 in “Veterinary Dermatology” This retrospective study documented various skin diseases in alpacas, reporting bacterial infections as the most common, along with other conditions described for the first time.
9 citations
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July 1995 in “Veterinary Clinics of North America: Small Animal Practice” This review discusses causes of hair loss in cats, highlighting self-inflicted trauma due to flea allergy dermatitis, and presents no new clinical findings.