A Filipino male with encephalocraniocutaneous lipomatosis (Haberland's syndrome)
Iris Alessandra S Pardo1, Marie Eleanore O Nicolas
1Section of Dermatology, Department of Medicine, University of the Philippines-Philippine General Hospital (UP-PGH), Manila, Philippines;
Background:
Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland's Syndrome, is a sporadically occurring neurocutaneous syndrome with no gender or race predilection. ECCL patients present with a broad spectrum of clinical manifestations, often in a unilateral distribution. The hallmark of ECCL is the nevus psiloliparus, a soft, bulging, lipomatous scalp lesion, with associated alopecia.
Main Observations:
We describe a case of a 2-month-old Filipino male with a soft, ill-defined mass with associated alopecia on the fronto-parietal scalp. Biopsy revealed findings consistent with a nevus psiloliparus. The patient also presented with a lipomatous nodule on the right temple, as well as choristomas and a coloboma on the right eye. He had no history of seizures and development was at par with age.
Conclusion:
Recognition of ECCL is important in order to work-up the patient for concomitant problems, such as central nervous system and cardiac anomalies, and employ a multidisciplinary approach in the management of these patients.
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