Işıl Göğem İMREN, Şeniz DUYGULU, Hatice EKŞİOĞLU

Multiple skalp ve ekstremite yerleşimli aplazia kutis konjenita

Aplazia kutis konjenita, deri, subkutan doku, seyrek olarak kemik ve meninkslerin yokluğu ile karakterize, nadir görülen heterojen bir hastalık grubudur. Tipik olarak aplasia kutis konjenita sporadik vakalar olarak görülmekle birlikte, sendromik vakalar da bildirilmiştir. Bu vaka sunumunda, 2 günlük bebekte multiple skalp derisi ve ekstremite defekti ile prezente olan sporadik bir aplasia kutis konjenita olgusu ile literatüründe seyrek rastlanan antiteyi skalp defektlerinin ayırıcı tanısında hatırlatmayı amaçladık

Aplasia kutis congenita with multiple scalp and limb locations

Aplasia cutis congenita is a rarely seen heterogenous group of disease characterized by the absence of a portion of skin, subdermal tissue, infrequently bone and meninges. Aplasia cutis congenita is typically sporadic; however, syndromic cases have also been reported. In this report, we present sporadic case, two-day old baby who had multiple scalp and extremity defects. We aimed to remind the rare entity in differential diagnosis of scalp defects.

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1. Moros Peña M, Labay Matías M, Valle Sánchez F, Valero Adán T, Martín Calama Valero J, Muñoz Albillos M. Aplasia cutis congenita in a newborn: etiopathogenic review and diagnostic approach. An Esp Pediatr 2000;52:453-456.
2. Marneros AG. BMS1 is mutated in aplasia cutis congenita. PLoS Genet 2013;9:e1003573. https://doi. org/10.1371/journal.pgen.1003573
3. Marble M, Guillen Sacoto MJ, Chikarmane R, Gargiulo D, Juusola J. Missense variant in UBA2 associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: a possible new disorder involving the SUMOylation pathway. Am J Med Genet A 2017;173:758-761. https://doi.org/10.1002/ ajmg.a.38078
4. Moriya J, Kakeda S, Korogi Y, Soejima Y, Urasaki E, Yokota A. An unusual case of split cord malformation. AJNR Am J Neuroradiol 2006;27:1562-1564.
5. Burkhead A, Poindexter G, Morrell DS. 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. J Perinatol 2009;29:582-584. https://doi.org/10.1038/jp.2008.250
6. Frieden IJ. Aplasia cutis congenita: a clinical review and proposal for classification. J Am Acad Dermatol 1986;14:646-660. https://doi.org/10.1016/S0190- 9622(86)70082-0