신경섬유종증 1형 환아에서 발생한 양성 두부 조직구증 1예

Abstract

Benign cephalic histiocytosis (BCH) is an uncommon subtype of non-Langerhans cell histiocytosis. A 5-month-old boy presented with multiple yellowish facial papules and plaques, which later spread to his trunk and both extremities. Laboratory tests, including lipid profile, were normal. Histological examination revealed non-foamy histiocytes, lymphocytes, and some eosinophils in the dermis. Immunohistochemical staining was positive for CD68 and factor XIIIa, but negative for CD1a and S-100. Additionally, the patient developed multiple café-au-lait spots with axillary and inguinal freckling. Next-generation sequencing identified a pathogenic variant of the neurofi- bromatosis type 1 (NF1) gene. Herein, we report a rare case of BCH in a patient with NF1. Although many cases of NF1 accompanied by juvenile xanthogranuloma have been reported, the association between BCH and NF1 has not been elucidated. However, considering that BCH may be a clinicopathological variant of juvenile xantho- granuloma, an association between the two diseases can be considered.