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Aplasia Cutis

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Note what signs you see.

I (W. Wertelecki, M.D.) see an area of the scalp with aplasia cutis congenital (ACC). This image was submitted by I.L., M.D.

PERSPECTIVE: ACC is a relatively common malformation. It represents a localized agenesis of the epidermis-dermis (skin). In this instance it is likely that there is a concurrent agenesis of the cranial bones, thus what is exposed is the meninges (duramadre). Healing may occur and the area will be alopecic. The scalp is the most common location. The pathogenesis is heterogeneous and  the etiology includes: syndromes due to gene mutations, in particular the Adams-Oliver syndrome (association with limb defects); trisomies, in particular Patau syndrome (13+trisomy); and a large array of less frequent associations with syndromes of diverse etiology.