What are group 9 aplasia cutis congenita (ACC) malformations?

Updated: Jul 31, 2018
  • Author: Joy Wan, MD, MSCE; Chief Editor: William D James, MD  more...
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Answer

This is aplasia cutis congenita associated with malformation syndromes. [49, 50] Aplasia cutis congenita has been reported as a characteristic in many syndromes, [51, 52, 53, 54] including trisomy 13 (Patau syndrome) with large membranous scalp defects; 4p- (Wolf-Hirschhorn) syndrome with midline scalp defects; Setleis syndrome with bitemporal aplasia cutis congenita and abnormal eyelashes; Johanson-Blizzard syndrome with stellate scalp defects; focal dermal hypoplasia (Goltz syndrome); amniotic band disruption complex; oculocerebrocutaneous (Delleman) syndrome; scalp-ear-nipple syndrome (Finlay-Mark syndrome) [55] ; Kabuki syndrome [56] ; and 46XY gonadal dysgenesis. Reticulolinear aplasia cutis congenita on the face and neck is a distinctive cutaneous manifestation in several syndromes linked to band Xp22.


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