Juvenile hyaline fibromatosis

Juvenile hyaline fibromatosis (also known as fibromatosis hyalinica multiplex juvenilis and Murray–Puretic–Drescher syndrome) is a very rare, autosomal recessive disease due to mutations in capillary morphogenesis protein-2 (CMG-2 gene). It occurs from early childhood to adulthood, and presents as slow-growing, pearly white or skin-colored dermal or subcutaneous papules or nodules on the face, scalp, and back, which may be confused clinically with neurofibromatosis. The World Health Organization in 2020 reclassified the papules and nodules that occur in juvenile hyaline fibromatosis as one of the specific benign types of tumors in the category of fibroblastic and myofibroblastic tumors.