Hypotrichosis

Definition:

Hypotrichosis (HYPT) is a non-syndromic hair loss that includes hereditary hypotrichosis simplex (HHS), localized autosomal recessive hypotrichosis (LAH), and Marie-Unna hereditary hypotrichosis (MUHH). HHS is a rare autosomal dominant form that affects men and women equally. It is characterized by progressing hair loss from childhood, culminating in an almost complete loss of scalp hair by the third decade.

References:

[1]. Ana Kljuic, et al. Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell. 2003 Apr 18;113(2):249-60. [Content Brief]

[2]. Anastasiya Kazantseva, et al. Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. Science. 2006 Nov 10;314(5801):982-5. [Content Brief]

[3]. Atsushi Fujimoto, et al. A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis. J Invest Dermatol. 2012 Oct;132(10):2342-2349. [Content Brief]

[4]. Cheng Zhou, et al. Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. Hum Mutat. 2011 Jul;32(7):710-4. [Content Brief]

[5]. María Rodríguez Vázquez, et al. Hereditary hypotrichosis simplex of the scalp. Pediatr Dermatol. 2002 Mar-Apr;19(2):148-50. [Content Brief]

[6]. Maria-Teresa Romano, et al. Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. Am J Hum Genet. 2018 Nov 1;103(5):777-785. [Content Brief]

[7]. Naveed Wasif, et al. Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. Hum Genet. 2011 Apr;129(4):419-24. [Content Brief]

[8]. R C Betz, et al. A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3. Am J Hum Genet. 2000 Jun;66(6):1979-83. [Content Brief]

[9]. Sandra M Pasternack, et al. Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. Am J Hum Genet. 2013 Jan 10;92(1):81-7. [Content Brief]

[10]. Xin Zhang, et al. Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis. J Med Genet. 2012 Dec;49(12):727-30. [Content Brief]

[11]. Yaran Wen, et al. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nat Genet. 2009 Feb;41(2):228-33. [Content Brief]

[12]. Yutaka Shimomura, et al. APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. Nature. 2010 Apr 15;464(7291):1043-7. [Content Brief]

[13]. Yutaka Shimomura, et al. Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. Nat Genet. 2008 Mar;40(3):335-9. [Content Brief]

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