JUVENILE HYALINE FIBROMATOSIS PDF

Alternative titles; symbols. Hyaline fibromatosis syndrome is an autosomal recessive condition characterized by abnormal growth of hyalinized fibrous tissue usually affecting subcutaneous regions on the scalp, ears, neck, face, hands, and feet. The lesions appear as pearly papules or fleshy nodules. The severity is variable.

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Click here to learn What's New at our website. Stuart, M. Gardner, M. Page views in 1, Cite this page: Stuart L. Juvenile hyaline fibromatosis. Accessed June 4th, Rare hereditary pediatric disorder with extracellular hyaline material deposition in skin, soft tissue and bone. Molluscum fibrosum in children original name given by Murray, , mesenchymal dysplasia Puretic et al, , disseminated painful fibromatosis Also called fibromatosis hyalinica multiplex Called infantile systemic hyalinosis if organ involvement, debatable if this is same disease or a distinct entity Pediatr Dermatol ; , J Am Acad Dermatol ; , Hum Mutat ; "Hyaline fibromatosis syndrome" proposed as an umbrella term for juvenile hyaline fibromatosis and infantile systemic hyalinosis since the two syndromes have significant clinicopathologic overlap J Am Acad Dermatol ; Infants or children under 5 years No ethnic predisposition Rheumatol Int ; , slight male predominance Occasionally presents in 4th - 5th decade.

Clinical features. Progressive, chronic, and often debilitating disease Pearly papules and plaques face, posterior neck, perianal region Large, subcutaneous nodules most often on scalp Gingival hypertrophy Flexure contractures due to masses in periarticular soft tissue Osteolytic bone lesions of skull, long bones, phalanges J Am Acad Dermatol ; Anemia, hypogammaglobulinemia, hypoalbuminemia, electrolyte imbalance.

Radiology description. No curative treatment Resection of lesions for aesthetic purposes may be considered varying results in literature Intralesional steroid injections in early lesions Physiotherapy to prevent contractures Indian J Dermatol ; , Eur J Dermatol ; Images hosted on other servers: Multiple subcutaneous nodules.

Nodules on pinna of ear. Large ulcerated nodules on back. Gingival hyperplasia. Multiple skin papules. Recurrent lesions. Gross description. Images hosted on other servers: Nodules with gelatinous surface. Microscopic histologic description. Poorly circumscribed amorphous or nodular deposits of abundant, hyaline material with embedded fibroblasts in cords Can have retraction artifact around fibroblasts Early lesions are characterized by increased cellularity No atypia, no necrosis.

Microscopic histologic images. Images hosted on other servers: Sparse, uniform spindle cells. Amorphous hyaline matrix in dermis with fibroblasts. Cytology description. Images hosted on other servers: Scant spindle cells.

Electron microscopy description. Fibroblasts with fibril-filled balls dilated ER with numerous cisternae containing granular material which displace nearly the entire cytoplasm The same granular material is present in extracellular spaces Weiss, Goldblum, Folpe: Enzinger and Weiss's Soft Tissue Tumors, , 5th Edition , Am J Dermatopathol ; Differential diagnosis.

Gingival fibromatosis : limited to gums, collagen-rich fibrous tissue Lipoid proteinosis : erythematous papules and subcutaneous nodules over joints, tendons, and pressure points Pediatr Dermatol ; Myofibromatosis , neurofibromatosis , and " turban tumor " syndrome multiple cylindromas are potential clinical mimics but have completely different histologic features Winchester syndrome : also has hypertrichosis, corneal opacities Pediatr Dermatol ; but may be related entity.

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JUVENILE HYALINE FIBROMATOSIS

Juvenile hyaline fibromatosis also known as "Fibromatosis hyalinica multiplex juvenilis," [2] "Murray—Puretic—Drescher syndrome" [2] 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. This condition is characterised by abnormal growth of hyalinized fibrous tissue with cutaneous, mucosal, osteoarticular and systemic involvement. Clinical features include extreme pain at minimal handling in a newborn, gingival hypertrophy, subcutaneous nodules, painful joint stiffness and contractures, muscle weakness and hypotonia. This gene is also known as capillary morphogenesis protein

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Juvenile hyaline fibromatosis

Juvenile hyaline fibromatosis is a rare, autosomal-recessive disease characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures and bone involvement in variable degrees. It is a connective tissue disorder with aberrant synthesis of glycosaminoglycans by fibroblasts. We report a 5-year-old female born of first-degree consanguineous marriage who presented with multiple, recurrent, painless, variable-sized nodules. Fine needle aspiration cytology smears and the subsequent histopathological examination from the nodules showed benign spindle cells in a Periodic acid Schiff-positive myxoid background.

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