A Case of Neurofibromatosis with Multiple Pseudoatrophic Macules / 대한피부과학회지

Neurofibroma usually manifests as a soft nodule that protrudes from the skin surface of patients with neurofibromatosis. Pseudoatrophic macule is a rare variant of neurofibroma, and it is described as a slightly depressed macular lesion. To the best of our knowledge, only one case of neurofibromatosis associated with pseudoatrophic macules has been reported in the Korean dermatologic literature. A 20-year-old man presented with multiple round shaped macules scattered on the trunk. The surface of the skin lesion was slightly depressed compared with the normal adjacent skin. He had multiple cafe-au-lait macules on the body and freckles in the axillae and inguinal areas. Histopathologic examination of the depressed macule demonstrated a relatively well-demarcated mass that was composed of spindle cells intermingled with loosely arranged collagen fibers in the dermis. The spindle cells showed a positive reaction for S-100 protein. Herein, we report on a rare case of type 1 neurofibromatosis with multiple pseudoatrophic macules.

A Case of Neurofibromatosis associated with Pseudoatrophic Macules / 대한피부과학회지

We report a case of Neurofibromatosis in a 19-year-old male who showed a pinkish atrophic patch on the back. He presented with multiple caf au lait macules, neurofibromas and axillary freckling. Cervical and thoracic spine X-ray revealed wedge-shaped bony deformities due to neurogenic tumor involving the vertebral foramina. Histopathologic examination demonstrated dilated vessels in the papillary dermis, decreased collagen in the reticular dermis and entrapped eccrine gland. This case suggests pseudoatrophic macule should be regarded to be a rare cut manifestation in neurofibromatosis. To our best knowledge, this is the first report in korea to show atrophic patch in neurofibromatosis.