A Newborn with Dysmorphic Features with Congenital Abnormality of Skin (Answers)

Winner of the Clinical Quiz Dr. Deepa John Thomas Assistant Professor, Department of Pediatrics Mount Zion Medical College, Kerala.Question 1: Identify the scalp lesions Answer: The scalp lesion described is aplasia cutis congenita (ACC). Aplasia cutis congenita is a rare congenital skin defect with an incidence of approximately 1–3 out of 10,000 births.[1] It is characterized by a focal or extensive absence of the epidermis, dermis, and subcutaneous tissue.[2] Nearly 70% of ACC lesions are solitary on the scalp. Question 2: Name the classification proposed for this skin condition Answer: Frieden classification is used for ACC. Nine described varieties of ACC have been documented according to the Frieden classification. Group 1: Scalp ACC without multiple anomalies Group 2: Scalp ACC with limb abnormalities Group 3: Scalp ACC with epidermal and organoid nevi Group 4: ACC overlying congenital malformations Group 5: ACC with associated fetus papyraceous placental infarct Group 6: ACC with epidermolysis bullosa Group 7: ACC localized to extremities without blistering Group 8: ACC due to specific teratogens Group 9: ACC associated with malformation syndromes. This case falls under Group 9 – ACC associated with malformation syndromes. Question 3: Identify the syndrome based on Images 1 and 2 and the features described in textImage 1: Scalp and facial anomalies at birth. (a) Midline scalp defects (~2 cm) extending into both parietal regions. (b) Cleft lip/palate, microcephaly, and hypertelorismImage 2: Limb abnormalities in the newborn. (a) Clenched hands with overlapping fingers. (b) Bilateral foot deformitiesAnswer: Based on the clinical features described including multiple scalp defects (ACC), characteristic facial dysmorphism (cleft lip, cleft palate, microcephaly, and hypertelorism), distinctive hand positioning (clenched hands with outer fingers overlapping inner fingers), foot deformities, cardiac involvement evidenced by pan-systolic murmur, and severe growth restriction (weight 1.18 kg at 35 weeks), this constellation of findings is suggestive of Trisomy 13 (Patau syndrome). Patau syndrome is one of the most severe forms of autosomal trisomies, having a karyotype of trisomy 13, and an incidence is 1 in 20,000 live births.[3] Question 4: Name one autosomal dominant and one autosomal recessive condition associated with this skin disorder Answer: The autosomal dominant (AD) and autosomal recessive (AR) conditions associated with ACC[4] are shown in Table 1. The most well-documented AD/AR condition with ACC is Adams–Oliver syndrome, which uniquely can be inherited in both AD and AR patterns depending on the specific gene involved.Table 1: Autosomal dominant and recessive conditions associated with aplasia cutis congenitaDeclaration of patient consent The authors certify that the legal guardian has given consent for images and other clinical information to be reported in the journal. The guardian understands that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.Comments by Dr. Ankita Patel (Section Editor) We hope you all enjoyed this stimulating quiz. Although the pictures may have been obvious, it was heartening to see good responses to the theoretical questions too. These unusual cases serve as valuable learning opportunities, enriching our understanding and expanding our clinical expertise. It was so nice to see such zealous response from all the corners of the country, and most of the responses were correct.