Schimmelpenning syndrome with didymosis aplasticosebacea in 1 month old female

Authors:

Jo Faustine Q. Manzano, MD, Elisa Rae Coo, MD, Victoria P Guillano MD, FPDS, Maricar Pamela LacuestaGutierrez, MD, FPDS

Abstract

Introduction: Schimmelpenning syndrome encompasses a broad spectrum of abnormalities that include the cardiovascular, skeletal, ophthalmologic and urogenital systems. Nevus sebaceous is a hallmark finding and ophthalmologic findings are seen in 59% of the cases and include colobomas and choristomas.

Case Summary: A newborn presents with a yellowish alopecic plaque over the scalp and soft mass over the right zygomatic area. Maternal and neonatal histories were unremarkable. Ballard score is appropriate for gestational age. Physical examination reveals a linear yellowish verrucous alopecic plaque over the right frontal region, skin colored nodule over the right zygomatic region and an atrophic patch with areas of circular erosion over the right occipital region. Reflexes were appropriate for age and there was a conjunctival mass over the right eye.

Newborn screening was normal and otoacoustic emission test revealed no hearing loss. She was referred to an ophthalmologist and was assessed to have right upper eyelid coloboma and right optic nerve coloboma. Cranial CT scan is unremarkable. Histopathology showed an increase in the number of sebaceous glands with malformed hair units. Patient has been managed holistically and currently has no seizures or secondary development of tumors in the nevus sebaceous.

Conclusion: Schimmelpenning syndrome is a multisystem neurodermatological disorder in which a nevus sebaceous may be associated with neurologic, skeletal or ocular abnormalities. Nevus sebaceous is a diagnostic marker of schimmelpenning syndrome and awareness of this may help physicians make an early diagnosis. Management requires collaboration of different specialties which is most essential to prevent complications.

 

Citation

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Keywords

Schimmelpenning syndrome , Nevus sebaceous syndrome, Didymosis aplasticosebacea

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