Inherited Disorders of the Hair

January 2013 in “ Elsevier eBooks ”

Mazen Kurban, Angela M. Christiano

TLDR The document explains the genetic causes and characteristics of inherited hair disorders.

The document from January 1, 2013, provides a comprehensive overview of inherited hair disorders, focusing on the genetic and molecular mechanisms underlying these conditions. It discusses the role of various genes and signaling pathways, such as WNT10A, APCDD1, EDA-A1/EDAR/EDARADD, and keratins, in the development of hair follicle-related abnormalities. Conditions such as Schöpf-Schulz-Passarge syndrome, hereditary hypotrichosis simplex, hypohidrotic ectodermal dysplasia, monilethrix, and autosomal dominant woolly hair are described with their respective genetic mutations and clinical features. The document also addresses disorders involving desmosomes, cardiocutaneous diseases, and the LIPH/LPA/LPAR6 signaling pathway. Additionally, it covers hair pigmentation disorders, trichorrhexis nodosa, pili torti, and trichothiodystrophy, as well as metabolic diseases like acrodermatitis enteropathica and biotinidase deficiency. Hypertrichosis is discussed in both generalized and patchy forms, with various syndromes and their genetic causes. The document also touches on polygenic diseases such as Alopecia Areata and Androgenetic Alopecia, highlighting the importance of genetic research in understanding these conditions. However, the document does not provide specific study numbers or results, as it focuses on rare genetic disorders with varying prevalence.

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