Juvenile hyaline fibromatosis (JHF) is a rare bone dysplasia, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue. Soft tissue. Fibroblastic / myofibroblastic tumors. Juvenile hyaline fibromatosis. Author: Lauren N. Stuart M.D., M.B.A.. Editor: Jerad M. Gardner. Juvenile hyaline fibromatosis is a very rare, autosomal recessive disease due to mutations in capillary morphogenesis protein-2 (CMG-2 gene). It occurs from.
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While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
The third child had painful joint contractures and died at age 2 years from diarrhea. Abstract Juvenile hyaline fibromatosis is a rare, autosomal-recessive disease characterized by papular and nodular fibromatoosis lesions, gingival hyperplasia, joint contractures and bone involvement in variable degrees.
Histologic analysis of the skin lesions showed proliferation of spindle cells without atypical features forming strands in fibrromatosis homogeneous and hyaline eosinophilic material within the dermis. There was no gingival hyperplasia or flexion contracture deformities of the limbs. The proband also showed deformity of the face and skull, stunted growth, osteolysis of terminal phalanges, multiple large subcutaneous fibromatoeis, some calcified, dysseborrheic, sclerodermiform and atrophic changes of the skin, recurrent suppurative infections of the skin, eyes, nose and ears, and gingival fibromatosis.
Other patients have later onset of a milder disorder affecting only the face and digits.
JUVENILE HYALINE FIBROMATOSIS
The infants failed to thrive and had diarrhea and recurrent infections. He had a history of pearly and nodular skin lesions, gingival hyperplasia, and joint contractures from the first months of life. Rare hereditary pediatric disorder with extracellular hyaline material deposition in skin, soft tissue and bone. Infantile systemic hyalinosis or juvenile hyaline fibromatosis? Occasional nodules reveal marked calcification.
A number sign is used with this entry because hyaline fibromatosis syndrome HFS is caused by homozygous or compound heterozygous mutation in the gene encoding capillary morphogenesis protein-2 CMG2, or ANTXR2; on chromosome 4q The girl had recurrent diarrhea and failure to thrive in the first 2 years of life. You can help Wikipedia by expanding it. Two siblings with juvenile hyaline fibromatosis: Quintal D, Jackson R.
Radiographs of the patients showed osteolytic bone lesions. Juvenile fibromatosis of the scalp in siblings. Int J Dermatol ; Two of the other patients also had severe failure to thrive, diarrhea, joint contractures followed by skin lesions, and gingival hyperplasia. Ishikawa fibromtaosis Hori described a 2. These authors described the disorder as molluscum fibrosum.
Fitzpatrick’s Dermatology in General Medicine.
JUVENILE HYALINE FIBROMATOSIS
The gene for juvenile hyaline fibromatosis maps to chromosome 4q Mutations in the gene jyaline capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.
The families were presumably unrelated, but originated from the same small village. The documents contained in this web site are presented for information purposes only. The patient was lost to follow-up for the past 7 years and now she has presented with many more new nodules over the forehead, chest and abdomen.
Orphanet: Juvenile hyaline fibromatosis
There was no significant lymphadenopathy or hepatosplenomegaly. Variable-sized grey-white nodular masses with gelatinous cut surface. Languages Fibromatoss Edit links.
Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Early lesions show increased cellularity and less-prominent stroma, whereas the large, older lesions are less cellular and contain more ground substance.
Suschke and Kunze considered the condition to be a mucopolysaccharidosis. The parents of 1 of the children were consanguineous. Excision in multiple sittings has been planned. The last patient was a year-old man who was wheelchair-bound due to postural deformity fibromwtosis severe contractures of multiple joints. Enzinger and Weiss’s Soft Tisssue Tumors. Autosomal recessive pattern is the inheritance manner of this condition.
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.
Juvenile hyaline fibromatosis
Click here for patient related inquiries. The severity is variable.
The gene that causes JHF juvenils been mapped to 4q Indian J Paediatr Dermatol ; Open in a separate window. Infantile systemic hyalinosis in siblings: The lesions appear as pearly papules or fleshy nodules. Juvenile hyaline fibromatosis and infantile systemic hyalinosis. New author database being installed, click here for details.
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