Segmental giant café au lait macule in neurofibromatosis 1

Abstract

A 2-year-old male child born of third degree consanguineous marriage was brought to dermatology outpatient department with multiple dark colored flat lesions over body and one large dark colored flat lesion over right side of body since birth. Another prominent feature was proptosis of left eye since 1 month. Cutaneous examination revealed multiple café au lait macules (CALMs) over lower limbs and back and large CALM over right side of back, chest, and upper limb with proptosis of left eye. Histopathological examination of large patch findings was suggestive of CALM. Magnetic resonance imaging (MRI) brain plain and contrast findings were suggestive of plexiform neurofibroma. Based on clinical features and investigations a diagnosis of giant CALM in segmental distribution in a case of neurofibromatosis 1 (NF1) was made. It can be explained on basis of type II segmental manifestation in NF1.

Keywords

• Giant segmental cafe au lait macule
• neurofibromatosis 1
• type II segmental manifestation