Segmental Lentiginosis and Hypomelanosis of Ito with Bilateral Lisch Nodules: Is it an Unusual Presentation of Segmental Neurofibromatosis?

Abstract

Observation: We here report a 16 year-old Turkish girl with an unusual combination of hiperpigmented macules and hypopigmented patch on her right face and neck region with a sharp demarcation to the midline. Her mother defined that they had first appeared when she was two years old. Bilateral lisch nodules in both eyes were determined through the ophthalmologic examination. While histopathology of a brown macule revealed the features of lentigo and hypopigmented patch showed the features of hypomelanosis of Ito the diagnosis of segmental (NF) was made on the basis of these clinical features and the absence of family history and systemic involvement. However bilateral Lisch nodules were found to be a rare accompanying disorder in segmentel NF, we suggest that our patient have a subtype of this entity. Although we could not demonstrate the genetic mutation, the clinical and histopathological findings indicate us the somatic mosaicism.