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Aplasia cutis congenita (also known as "Cutis aplasia," "Congenital absence of skin," and "Congenital scars") is the most common congenital cicatricial alopecia, and is a congenital focal absence of epidermis with or without evidence of other layers of the skin.〔Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.〕〔James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. ISBN 0-7216-2921-0.〕 It can be associated with Johanson-Blizzard syndrome, Adams-Oliver syndrome, trisomy 13, and Wolf-Hirschhorn syndrome. It is also seen with exposure to Methimazole and/or Carbimazole in utero. This dermatological manifestation has been linked to Peptidase D haploinsufficiency and a deletion in Chromosome 19. ==Genetics== This condition has been linked to mutations in the ribosomal GTPase BMS1 gene.〔Marneros AG (2013) BMS1 is mutated in Aplasia Cutis Congenita. PLoS Genet 9(6):e1003573. doi: 10.1371/journal.pgen.1003573〕 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Aplasia cutis congenita」の詳細全文を読む スポンサード リンク
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