We report on a female aged 13 years, whose scalp hair began to disappear at the age of 9 years, leaving only sparse wispy hairs in the parietal-occipital region. Eyelashes, eyebrows and body hair were unaffected. There were no signs of ectodermal dysplasia on the skin, nails, teeth and eyes nor other congenital abnormalities. The family pedigree showed 15 relatives similarly affected according to an autosomal dominant mode of transmission. Clinical, genetic, histological and ultrastructural aspects led to a diagnosis of hereditary hypotrichosis simplex of the scalp (Toribio-Quiñones type).
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http://dx.doi.org/10.1159/000246532 | DOI Listing |
Indian J Dermatol Venereol Leprol
November 2024
Department of Dermatology, School of Medicine, Pusan National University, Seo-Gu, Busan, Republic of Korea, Korea.
Eur J Pharmacol
December 2024
Department of Dermatology, Hangzhou Third Hospital Affiliated to Zhejiang Chinese Medical University, Hangzhou, 310009, China; Department of Dermatology, Hangzhou Third People's Hospital, Hangzhou, 310009, China. Electronic address:
Increased sensitivity to androgens and androgen receptors is the underlying cause of androgenetic alopecia (AGA), a hereditary disease. Our study investigated the preventive effects of MitoQ on dihydrotestosterone (DHT)-induced mitochondrial dysfunction and subsequent hair loss from three perspectives: in vivo, in vitro, and network pharmacology. A mouse model of AGA was used to assess the effectiveness of MitoQ intervention.
View Article and Find Full Text PDFArch Dermatol Res
October 2024
Institute of Biotechnology and Genetic Engineering, The University of Agriculture Peshawar, Pakhtunkhwa, Pakistan.
The purpose of this research was to identify the role of keratin proteins in causing inherited as well as pathogenic alopecia, pinpoint deleterious SNPs, and predict structural changes affecting protein-protein interactions in hair disorders. To elucidate the role of keratin proteins and genetic mutations in alopecia by analyzing protein structures through bioinformatics and identifying a mutation in the LPAR6 gene. It sought to identify the microorganisms linked to alopecia and conducted a comprehensive bioinformatics analysis of proteins with unknown experimental structures and molecular simulation analysis.
View Article and Find Full Text PDFJ AAPOS
October 2024
Department of Ophthalmology, Olmsted Medical Center, Rochester, Minnesota.
An 11-month-old boy with nonscarring alopecia was referred for ophthalmic evaluation because of photophobia from the age of 4 months. Whole-exome sequencing identified a heterozygous mutation in the SREBF1 gene, confirming the diagnosis of hereditary mucoepithelial dysplasia. Ocular examination revealed meibomian gland dysfunction and superficial corneal vascularization and opacity.
View Article and Find Full Text PDFJAAD Case Rep
September 2024
Department of Dermatology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
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