Marie-Unna hereditary hypotrichosis

Definition:

Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant form of hereditary hair loss. It is characterized by sparse or absent scalp hair, eyebrows, and eyelashes at birth. Coarse and wiry hair is progressively lost in this disease. Responsive mutations are found in U2HR, an inhibitory upstream open reading frame in the 5'-untranslated region of the HR gene. Recently, a missense mutation of EPS8L3 in MUHH has been identified.

References:

[1]. Joshua O Podjasek, et al. Marie-Unna hereditary hypotrichosis: case report and review of the literature. Pediatr Dermatol. 2011 Mar-Apr;28(2):202-4. [Content Brief]

[2]. Silke Redler, et al. Marie Unna hereditary hypotrichosis: identification of a U2HR mutation in the family from the original 1925 report. J Am Acad Dermatol. 2011 Apr;64(4):e45-50. [Content Brief]

[3]. 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]

[4]. 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]

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