A case of extensive Aplasia Cutis Congenita with underlying skull defect and central nervous system malformation: discussion of large skin defects, complications, treatment and outcome

Abstract

Aplasia Cutis Congenita (ACC) is a rare condition characterized by the absence of a portion of skin at birth. Skin defects are usually small (0.5 to 3 cm) and located on the scalp. Although there can be other physical or genetic abnormalities, ACC is most often a benign isolated condition. Rarely is an underlying bony defect present, and this association increases the rate of complications. We report a case of a newborn male with ACC of the entire crown and vertex scalp, non-ossified parietal skull and dysplastic corpus callosum. The patient's skull and skin defects were treated non-surgically, and he recovered well.

Aplasia cutis congenita: report of 22 cases

“…Surgical options include bone reconstruction or scalp pedicled flap . Potential post‐surgical problems encountered include infection, sagittal sinus hemorrhage upon scar debriding, flap necrosis, and graft loss . In the literature, the mortality rate remains high, ranging between 20 and 50% .…”

“…The treatment for ACC is controversial. Small areas of ACC usually heal, leaving atrophic plaques (six cases) or cicatricial alopecia in ACC of vertex (14 cases) . Treatment is based on either conservative methods or surgery.…”

Like Father, Like Daughter—inherited cutis aplasia occurring in a family with Marfan syndrome: a case report

“…For example, in Adams–Oliver syndrome, ACC accompanies limb deformities, cutis marmorata telangiectasia congenita, and/or structural brain abnormalities . As in our patient, most defects heal spontaneously, with a resultant scar and alopecia . The etiology remains unclear, but theories include infection, defects in amniogenesis, teratogens, and vascular malformations .…”

Aplazia Kutis Konjenita'lı Olguların Değerlendirilmesi ve İzlemi

“…Çoğu vakada ise doğumda fokal ülsere lezyon olarak saptanır. Çeşitli sendromlarla birlikteliği olsa da, sıklıkla izole olarak görülür (6 …”