An Egyptian boy with Haberland syndrome: Case report with observations on the histopathology

CNS: central nervous system INTRODUCTION Haberland syndrome is characterized by diverse malformations affecting the ecto-mesodermal tissues (the central nervous system, the eye, and the skin). The most prominent anomalies include a hairless fatty tissue nevus of the scalp (nevus psiloliparus) and ocular choristomas. In addition, several central nervous system (CNS) anomalies have been described, including cranial and spinal lipomas, partial or complete hemisphere atrophy, and intracranial cysts that can lead eventually to mental retardation and/or seizures. We present a case of Haberland syndrome that met the revised diagnostic criteria proposed by Moog in 2009 and can be considered a definite case of Haberland syndrome despite the absence of a fatty nevus. In addition, we demonstrate that the histopathologic findings of vascular hyperplasia are a prominent feature of all involved sites. fronto-parietal scalp and part of the right side with 3 localized atrophic skin areas. CASE REPORT A 13-year-old boy was referred to our outpatient clinic with a large patch of nonscarring alopecia on the left fronto-parietal scalp dating since birth (Fig 1). History of epileptic fits along with weakness confined to the right side of his body was reported by the parents at the age of 4 years. There was neither a history of parental consanguinity or birth trauma nor a family history of developmental problems. General examination findings were normal except for a slight increase in the head circumference, which was above normal for age at 23.6 inches (average 20.5e 22 inches). Mental development was otherwise normal. On dermatologic examination, multiple skin-colored skin papules resembling skin