Cutis marmorata telangiectatica congenita is a well-characterized cutaneous vascular disorder with variable and rare ocular involvement. It has been reported in association with glaucoma, bilateral congenital retinal detachments, bilateral tractional retinal detachments secondary to proliferative vitreoretinopathy, and retinoblastoma. This case demonstrates novel findings of bilateral periphera...

how to cite this article: saeed m, haq a, qadir kh.bart’s syndrome associated corpus callosum agenesis and choanal atresia. iran j child neurol. 2014 autumn;8(4): 76-79. abstract objective bart’s syndrome is defined as congenital localized absence of skin, and associated with epidermolysis bullosa. a newborn with bart’s syndrome is reported because it is a very rare condition, especially when a...

To cite: van Geyzel L, Gribbon C, Bradley S, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2016-217959 DESCRIPTION A male infant presented with drooling of saliva at birth. There was an antenatal history of polyhydramnios. Oesophageal atresia and tracheoesophageal fistula (OA/TOF) were confirmed by the coiled nasogastric tube on chest X-ray. Skin was per...

Epidermal nevus syndrome (ENS) is a rare condition characterized by congenital epidermal nevi (EN) associated abnormalities of other organs including central nervous system (CNS), skeletal system, eyes, and oral cavity (1). ENS is divided into a group of distinct disorders, based on the associated epidermal nevus and genetic inheritance pattern. Organoid nevus could be seen in some ENS, includi...

The clinical manifestations of calcinosis cutis vary from asymptomatic cutaneous papules to lifethreatening calciphylaxis. We describe a 61-year-old female who was found to have extensive calcinosis cutis on her left forearm 4 days following liver transplantation. Large amount of calcium chloride solution was intravenously infused during the operation at the same site without gross extravasatio...

Papillomatosis cutis lymphostatica is a benign, usually asymptomatic and underreported condition resulting from primary lymphedema or damage of lymphatic vessels due to diabetes. Cases have only been published sporadically. The presented image may help future colleagues to establish the diagnosis.