Acta Dermato-Venereologica 99-3CompleteContent | Page 26

343 SHORT COMMUNICATION A Case of Aplasia Cutis Congenita with Widespread Multifocal Skin Defects Without Extracutaneous Abnormalities Jemin KIM 1 , Jihee KIM 1 , Myeongseob LEE 2 , Eui Ra HUH 2 , Joohee LIM 2 , Kook In PARK 2 and Sang Ho OH 1 * 1 Department of Dermatology, Severance Hospital, Cutaneous Biology Research Institute, Yonsei University College of Medicine, 50 Yonsei- ro, Seodaemun-gu, Seoul 03722, and 2 Department of Pediatrics, Severance Children’s Hospital, Seoul, Korea. *E-mail: [email protected] Accepted Nov 20, 2018; E-published Nov 21, 2018 Aplasia cutis congenita (ACC) is a rare congenital disor- der characterized by focal, localized absence of skin or defects of the skin in neonates. The estimated incidence of ACC is approximately 0.5–1 in 10,000 newborns (1). The clinical appearance of ACC is heterogeneous and it can be associated with various systemic congenital anomalies. However, the causative gene mutation is un- clear. Frieden (2) proposed a classification of ACC based on clinical characteristics, such as involved body area, associated anomalies, and inheritance patterns. Most cases of ACC manifest as a solitary lesion involving the scalp, especially at the vertex. However, ACC is also associated with underlying malformations, such as limb or skull defects, or organ involvements, including central nervous, cardiovascular, and gastrointestinal systems (1–4). ACC treatment is controversial, but most cases heal spontaneously within a few weeks with conservative treatment (1, 3, 4). We report here a rare presentation of ACC with multifo- cal, symmetrical, discrete skin lesions over the entire body, including the scalp and extremities, in a newborn male. CASE REPORTS A full-term male infant born at 39 weeks of gestation (birthweight 2,560 g) was transferred to the neonatal intensive care unit (NICU) with multifocal full-thickness skin defects over the entire body: scalp, trunk, and extremities. His parents denied any family history of congenital skin disease, and there was no history of infectious disease, trauma, and maternal intake of drugs in the prenatal period. The mother had a history of one previous pregnancy, resulting in a normal child. During prenatal evaluation, no signs of systemic or macroscopic placental anomaly were detected. Fig. 1. (a) Full-thickness skin defects immediately after birth. (b) Within a few hours, several lesions covered with thin yellowish crusts with signs of spontaneous healing (arrowhead). At delivery, more than 30 individually demarcated, well-defined, coin-sized, full-thickness skin defects were noted on the entire body, including the scalp and extremities (Fig. 1). However, there was no sign of blister formation or mucosal erosions, and the distal ends of the patient’s digits were intact with no dystrophy of the nail units. The patient underwent a thorough evaluation, including skull and whole-spine radiography, brain ultrasonography, and echocardiography, to detect possible anomalies, and there were no additional systemic abnormalities apart from the skin manifes- tations. A genetic assay panel for possible dysmorphisms (ARX, FOXC2, PLEC, LAD1, etc.) was performed using next-generation sequencing combined with direct sequencing. No genetic muta- tions associated with congenital bullous disease were noted. Since no newly formed lesions were observed during the first few days after birth and several lesions showed signs of spontaneous healing, it was decided to provide conservative treatment with no additional surgical treatment. The infant was placed in incu- bator care with a humidity of more than 80%, in order to prevent excessive trans-epidermal water loss and desiccation of healing lesions. He was treated with semi-occlusive dressings twice a day for the first week after birth. To prevent maceration due to wound exudates, a combination mixture of petrolatum ointment, paraffin emollient and mupirocin ointment was used, covered with antibacterial dressing material (Sorbact ® Compress, ABIGO Medical AB, Sweden). The dressing protocol was continued for the following weeks with occasional wound swabs to detect any possible infection. Prophylactic antibiotics (ampicillin/sulbactam, cefotaxime) were initiated, but were discontinued after 10 days when subsequent swab culture results showed no bacterial growth. After 3 weeks, the patient was discharged from the NICU when more than 70% of the lesions showed re-epithelization. Some lesions, especially on the flanks where the defects were most extensive at birth, presented with peripheral cicatrization, but the surrounding skin did not show contracture. Until the age of 12 months, no medical problems were apparent, and the infant showed completely normal development on routine paediatric examination. No new lesions developed, most lesions were fully epithelized, and visible hair follicles were observed from healed lesions on the scalp (Fig. 2). Fig. 2. (a) Well-healed skin defect leaving whitish scars without contracture at the age of 9 months. (b) Hair regrowth on healed scalp lesions (circle). This is an open access article under the CC BY-NC license. www.medicaljournals.se/acta Journal Compilation © 2019 Acta Dermato-Venereologica. doi: 10.2340/00015555-3088 Acta Derm Venereol 2019; 99: 343–344