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Juvenile hyaline fibromatosis

Juvenile hyaline fibromatosis (also known as 'Fibromatosis hyalinica multiplex juvenilis,' '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. Juvenile hyaline fibromatosis (also known as 'Fibromatosis hyalinica multiplex juvenilis,' '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.

[ "Hyaline", "Dominance (genetics)", "Systemic disease", "Infantile systemic hyalinosis", "HYALINE FIBROMATOSIS SYNDROME" ]
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