Schimmelpenning syndrome with Didymosisaplasticosebacea in an infant

ABSTRACT

Introduction@#Schimmelpenning syndrome may encompass abnormalities of the cardiovascular, skeletal, ophthalmologic and urogenital systems. Nevus sebaceous is a hallmark finding and ophthalmologic findings are seen in 59% of the cases which include colobomas and choristomas.@*Case Summary@#A 1-month-old female presented with a verrucous plaque over the scalp and right zygomatic area upon birth. Physical examination reveals a linear yellowish alopecic verrucous plaque over the right frontal region, yellowish alopecic verrucous plaque topped with a skin colored papule over the right zygomatic region, conjunctival mass over the right eye and an atrophic patch with areas of circular erosion over the right occipital region. Ballard score and reflexes were appropriate for gestational age. Newborn screening was normal and otoacoustic-emission-test revealed no hearing loss. She was referred to an ophthalmologist and was assessed to have a lipodermoid, right upper eyelid and optic nerve coloboma. Cranial CT scan is unremarkable. Histopathology showed an increase in number of sebaceous glands with malformed hair units. She was managed holistically and does not have seizures and no secondary development of tumors in the nevus sebaceous.@*Conclusion@#Schimmelpenning syndrome is usually associated with the clinical triad of nevus sebaceous, mental retardation and seizures. In this case, seizures were absent, however, there is an associated lipodermoid, right upper eyelid and right optic nerve coloboma. In addition, she also presented with aplasia cutis congenita. Hence, it is important to look for other manifestations when patients present with nevus sebaceous because management requires collaboration with different specialties.