Aplasia cutis congenita
Absence of skin at birth
- 1 min read
- 3 chapters
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ToursExplore Lably’s 3D toursThe exact etiology of ACC is still unclear but intrauterine infection by varicella or herpes virus, drugs such as methimazole, misoprostol, valproate, cocaine, marijuana etc., fetus papyraceus, feto-fetal transfusion, vascular coagulation defects, amniotic membrane adherence, abnormal elastic fiber biomechanical forces and trauma are implicated. It can be associated with Johanson–Blizzard syndrome, Adams–Oliver syndrome, trisomy 13, and Wolf–Hirschhorn syndrome. It can also be seen with exposure to methimazole and carbimazole in utero. This dermatological manifestation has been linked to Peptidase D haploinsufficiency and a deletion in Chromosome 19.
Signs and symptoms
Review Edwards disease
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Genetics
This condition has been linked to mutations in the ribosomal GTPase BMS1 gene.
Treatment
Skin grafting is a solution to fix aplasia cutis congenita.

