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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Landing and Nadorra suggested autosomal recessive inheritance of infantile systemic hyalinosis since 2 sisters were affected. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.
Juvenile hyaline fibromatosis JHF is a rare bone dysplasia, characterized by papulo-nodular skin lesions especially around the head and necksoft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees.
A case report follow-up after 3 years and a review of the literature.
The material is in no way intended to replace professional medical hyqline by a qualified specialist and should not be used as a basis for diagnosis or treatment. Unfortunately, it is not free to produce.
The girl had recurrent diarrhea and failure to thrive in the first 2 years of tibromatosis. How to cite this URL: Joint contractures may cripple patients and delay normal motor development if occuring in infancy. The gene that causes JHF has been mapped to 4q Other patients have later onset of a milder disorder affecting only the face and digits.
Nil Conflict of Interest: D ICD – We need long-term secure funding to provide you the information that you need at your fingertips. Indian J Dermatol Venereol Leprol.
Pathology Outlines – Juvenile hyaline fibromatosis
Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. 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 article has been cited by other articles in PMC.
Mutations in capillary morphogenesis gene 2 gene is responsible for both these conditions. 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.
Juvenile hyaline fibromatosis – Wikipedia
Suschke and Kunze considered the condition to be a mucopolysaccharidosis. Some individuals present in infancy and have additional visceral or systemic involvement, which can lead to early death. Related articles Capillary morphogenesis gene 2 mutations hyaline fibromatosis syndrome infantile systemic hyalinosis juvenile hyaline fibromatosis.
Anemia, hypogammaglobulinemia, hypoalbuminemia, electrolyte imbalance.
They are often found in the dermis, subcutis and gingiva, although the bone and joints may also be involved. Accessed December 31st, This Dermal and subcutaneous growths article is a stub.
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Early lesions show huvenile cellularity and less-prominent stroma, whereas the large, older lesions are less cellular and contain more ground substance. This website is intended for pathologists and laboratory personnel, who understand that medical information is imperfect and must be interpreted using reasonable medical judgment.
Retrieved from ” https: Variable-sized grey-white nodular masses with gelatinous cut surface. Specialised Social Services Eurordis directory. Kitano reported an affected boy who was born of consanguineous parents, suggesting autosomal recessive inheritance. Infantile systemic hyalinosis in siblings: Click here for patient related inquiries.
Summary and related texts. Br J Dermatol ; Purifaction and structural analysis of extracellular matrix of a skin tumor from a patient with juvenile hyaoine fibromatosis.