Juvenile hyaline fibromatosis in siblings

Department of Dermatology, Dr. S. N. Medical College, Jodhpur, India.
Indian Journal of Dermatology Venereology and Leprology (Impact Factor: 1.39). 03/2005; 71(2):115-8. DOI: 10.4103/0378-6323.13998
Source: PubMed


Juvenile hyaline fibromatosis (JHF) is a rare, autosomal recessively inherited disorder. We report two siblings with multiple large tumors on the scalp, translucent papules on the nape of the neck, hypertrophic gingiva, and severe flexural contractures of large joints. The histopathology from the skin lesions showed features characteristic of juvenile hyaline fibromatosis. The cases are being reported on account of the extreme rarity of the condition.

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Available from: Mahendra Kumar Singhi, Apr 11, 2014
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    ABSTRACT: Juvenile hyaline fibromatosis (JHF) is a rare, autosomal recessively inherited disorder characterized histologically by deposition of hyaline, collagen like substance aberrantly synthesized by the cells of the connective tissue and deposited within many organs, typically within the skin, gingiva, joints and bones. We report this rare case of Juvenile hyaline fibromatosis in a young boy who presented clinically with multiple papulonodular skin lesions, non tender soft tissue masses over the scalp, face, anterior chest wall, back, periarticular regions of the extremities with restricted mobility of joints and gingival hypertrophy. Calcifications were seen within the tumor shadows in the skull X-Rays. Histopathological study revealed characteristic features consistent with Juvenile hyaline fibromatosis. We report this case in view of its rarity.
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    ABSTRACT: We describe here a three year-old girl with classic clinical and histological features of juvenile hyaline fibromatosis. We found a history of similar skin findings in her eldest sister, in whom the disorder took a rapidly progressive and fatal course in the second year of life, suggesting either a very severe form of juvenile hyaline fibromatosis, or the possibility of infantile systemic hyalinosis. The similarities and differences between these two described types of hyalinoses have been reviewed in reference to the present report.
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