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). 01/2005; 71(2):115-8. DOI: 10.4103/0378-6323.13998
Source: PubMed

ABSTRACT 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-recessive hereditary disease, characterized by gingival hypertrophy, flexion contractures of joints, bone lesions, hyaline deposition in the extracellular spaces of the dermis and soft tissues, stunted growth, and skin lesions such as multiple nodules, tumors and pink, pearly papules. No case of JHF with a mandibular bone involvement, exists in the literature. Bone involvement in JHF is an uncommon finding and distinct solitary lesions in the calvarial bones has been reported by some authors. A 21-year-old male patient was referred to Diyarbakir Military Hospital, Department of Dental Service. Clinical findings were consistent with a solid alveolar mass in the right mandibular premolar-molar region and displaced right mandibular molar teeth. Orthopantomographic examination showed impaction of all lower right molars in a mixed radioopaque/radiolucent area. Microscopically, increased nodular connective tissue was seen under the lobulated mucosal surfaces of the resected area. The case presented here had a localized fibrous proliferation that infiltrated bone trabeculae and caused displacement of teeth. Juvenile hyaline fibromatosis should be considered in the differential diagnosis with the other intraosseous radiolucent-patchy opaque lesions of jaw bones. Based on the clinical and histopathological findings, a diagnosis of JHF was made.
    Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology 09/2009; 108(5):e59-63. DOI:10.1016/j.tripleo.2009.06.034 · 1.46 Impact Factor
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    ABSTRACT: 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. The disease has a relentlessly progressive course, with most patients surviving only up to the 4(th) decade. As of now, there is no specific treatment for this disorder. Genetic counseling is essential to explain to parents about a 25% chance of having a diseased baby in any pregnancy. With the gene being mapped recently, techniques for antenatal diagnosis are likely to be established.
    Indian Journal of Dermatology 11/2011; 56(6):731-3. DOI:10.4103/0019-5154.91840