Sporadic aplasia cutis congenita.
Aplasia cutis congenita (ACC) is a rare group of disorders characterized by the focal absence of skin at birth. The majority of cases affect the scalp, but involvement of the trunk and extremities has been described. Proposed etiologies for ACC include infection, vascular malformations, amniogenesis, and teratogens, but no unifying theory has been identified. We present the case of a 1-day-old female with large, bilateral posterolateral trunk skin defects noted at birth. The prenatal history was significant for maternal diabetes, fetal papyraceus at 12 weeks' gestation, and a family history of limb defects. The infant was treated non-surgically with local wound care and antibiotics, as well as frequent dressing changes. The areas of absent skin developed a granulation-tissue layer followed by re-epithelialization and mild wound contracture. With early identification of the etiology of the lesions and appropriate investigation and treatment, including conservative wound management, aplastic lesions can heal successfully without affecting growth, but may require cosmetic repair at a later stage.
Fagan
Linda-Lynn
LL
Department of Pediatric Surgery, Vanderbilt University Medical Center, Nashville, TN, USA.
Harris
Philip A
PA
Coran
Arnold G
AG
Cywes
Robert
R
D020405:Dermis / Q000002:abnormalities*; D004476:Ectodermal Dysplasia / Q000209:etiology / Q000628:therapy*; D004817:Epidermis / Q000002:abnormalities*; D005260:Female; D005313:Fetal Death; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011254:Pregnancy in Diabetics; D011272:Pregnancy, Multiple