Aplasia cutis congenita

Definition:

Aplasia cutis congenita (ACC) is a rare malformation characterized by localized congenital absence of the skin, mostly affecting the scalp vertex. It can occur in isolation or as part of a heterogeneous group of syndromes such as Adams-Oliver syndrome and Johanson-Blizzard syndrome. A mutation in the ribosomal GTPase BMS1 is identified in ACC. BMS1 has a role in processing of pre-rRNAs of the small ribosomal subunit. And mutations that affect ribosomal function can result in a cell cycle defect.

References:

[1]. Alexander G Marneros, et al. BMS1 is mutated in aplasia cutis congenita. PLoS Genet. 2013 Jun;9(6):e1003573. [Content Brief]

[2]. Piotr Brzezinski, et al. Aplasia cutis congenita of the scalp--what are the steps to be followed? Case report and review of the literature. An Bras Dermatol. 2015 Jan-Feb;90(1):100-3. [Content Brief]

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