Encephalocraniocutaneous Lipomatosis without Neurologic Anomalies

Abstract

1in 1970, the majority of new cases of ectomesodermal dysgenesis have been reported using the term ECCL. A 1-month-old Asian male was referred for dermatologic evaluation of patchy alopecia located in the frontotemporal region. The hairless patch had been noted at birth. Physical examination revealed a soft, somewhat elevated, area of patchy hair loss in the frontotemporal region (Fig. 1a). A biopsy of the hairless scalp revealed diffuse loss of hair follicles and thickening of the subcutaneous fatty tissue with lobular proliferation (Fig. 2A). The clinical and histologic findings of the scalp lesion were consistent with nevus psiloliparus, which is considered a hallmark of ECCL. No sign of scalp inflammation or scarring was found. Additionally, some papular lesions had been present on the forehead and periocular area since birth