Aplasia cutis congenita (ACC) manifests with localized skin defects at birth of unknown cause, mostly affecting the scalp vertex. Here, genome-wide linkage analysis and exome sequencing was used to identify the causative mutation in autosomal dominant ACC. A heterozygous Arg-to-His missense mutation (p.R930H) in the ribosomal GTPase BMS1 is identified in ACC that is associated with a delay in 1...

To cite: Pimenta J, Lapa P, Ramos L. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2016218950 DESCRIPTION Amniotic band syndrome is an unusual clinical entity with a wide variety of presentations that include constriction rings, syndactyly and limb or digital amputations. 2 Aplasia cutis congenita is a rare congenital anomaly involving variant layers of the skin...

Babies commonly present with skin anomalies at or shortly after birth. While physiological cutis marmorata is a frequently encountered condition, we report a rare entity that appears similar, but should not be confused with it. Cutis marmorata telangiectatica congenita (CMTC) is a rare, sporadic condition that presents at birth as a localised or generalised reticulated, blue-violet vascular net...

Aplasia cutis congenita (ACC) is alleged to be a side effect of antithyroid therapy during pregnancy. This occurrence is uncommon. Only 24 cases have been reported in the literature. In France, there has been no report by the National Center of Pharmacovigilance since 1985. We report a 39-year-old woman with no significant past history in whom Graves disease developed without eye symptoms. She ...

Objectives Aplasia cutis congenita is a rare congenital condition, and it is difficult to find scientific support for optimal treatment strategies. In addition, these may vary due to defect size, tissue layers involved, contemporary malformations, and the physiologic status of the affected child. Clinical Presentation This case report describes complete skin coverage in 20 weeks and uneventful ...