Localized autosomal recessive hypotrichosis (LAH) is a rare non-syndromic human alopecia/hypotrichosis that is inherited as an autosomal recessive trait. Affected individuals display short, sparse hairs on the scalp, trunk, and extremities. Facial hair including the eye-brows, eye-lashes and beard show a broad range of hypotrichosis from almost normal to less dense condition. Patients' skin is normal.
Category
Skin disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
Genetic and developmental disorders affecting the skin
EC21 Genetic defects of hair or hair growth
H00784 Localized autosomal recessive hypotrichosis
Kljuic A, Bazzi H, Sundberg JP, Martinez-Mir A, O'Shaughnessy R, Mahoney MG, Levy M, Montagutelli X, Ahmad W, Aita VM, Gordon D, Uitto J, Whiting D, Ott J, Fischer S, Gilliam TC, Jahoda CA, Morris RJ, Panteleyev AA, Nguyen VT, Christiano AM
Title
Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.
Wajid M, Bazzi H, Rockey J, Lubetkin J, Zlotogorski A, Christiano AM
Title
Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family.
