Linear Nevus Sebaceous with Vitamin D3 Resistant Rickets (Schimmelpenning Syndrome)
Journal Title: International Journal of Contemporary Medical Research - Year 2017, Vol 4, Issue 5
Abstract
Introduction: Schimmelpenning syndrome is a neurocutaenous condition characterized by one or more sebaceous nevi, usually on the face or scalp, associated with anomalies of the central nervous system, ocular system, skeletal system, cardiovascular system and genitourinary system. It is also called linear nevus sebaceous syndrome, sebaceous nevus syndrome and Jadassohn’s nevus phacomatosis. It is one of the types of epidermal nevus syndromes with sebaceous nevi and vitamin D resistant (hypophosphatemic) rickets. There is growing evidence that in these situations, the epidermal nevi produce a phosphaturic factor which causes hypophosphatemic rickets. Case report: We highlight a case of an 8 years old boy with congenital epidermal nevi on face, scalp and neck, who developed vitamin D resistant rickets at 7 years of age. Conclusion: We report this case because of its rarity. Nevus sebaceous is the hallmark of Schimmelpenning syndrome, and if physicians are aware of this distinct lesion, an early diagnosis can prevent the development of rickets causing marked disability.
Authors and Affiliations
Gupta Anju Darshan Kumar, Aseem Singh, Karnail Singh
Keywords
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