Juvenile hyaline Wbromatosis: Focus on radiographic features in adulthood

Department of Rheumatology, Ben Aknoun Hospital, Algiers, 16300, Algeria.
Rheumatology International (Impact Factor: 1.52). 02/2011; 31(2):273-6. DOI: 10.1007/s00296-010-1583-2
Source: PubMed


Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive hereditary disorder (less than 80 cases reported), characterized by multiple nodular lesions on the skin and musculoskeletal involvement, very debilitating because most adolescents and adults become bedridden. Only 10 cases have been reported on JHF in adulthood. We report the case of a 34-year-old male patient in whom clinical and histological findings were consistent with a mild JHF and focus on the radiographic features. The main purpose of this report is to increase the information available related to the radiographic manifestations and prognosis of JHF.

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Available from: Samy Slimani, Dec 15, 2013
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    • "Juvenile hyaline fibromatosis (JHF) (OMIM 228600) and infantile systemic hyalinosis (ISH) (OMIM 236490) are autosomal recessive disorders of the connective tissue that are characterized by abnormal growth of hyalinized fibrous tissue that involves the skin and other organs (gingiva, joints, and bones) leading to multiple subcutaneous skin nodules and/or pearly papules, gingival hypertrophy, flexion contractures of the joints, and osteolytic bone defects (El-Maaytah et al., 2010; Slimani et al., 2011; Denadai et al., 2012). The onset of clinical manifestations of JHF is normally in the first 3–4 months of life, and ISH typically manifests at an earlier age in the first weeks to months of life with visceral involvement and early lethality (Félix et al., 2004; Mendonc¸a et al., 2011). "
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    ABSTRACT: Introduction: Farber lipogranulomatosis and infantile systemic hyalinosis are two rare autosomal recessive diseases with overlapping phenotypic features. Aim: The aim of the study was to present the difficulty in differentiating between these two rare disorders on clinical bases only and emphasize the importance of exome sequencing in the accurate diagnosis of patients with atypical presentations of known genetic diseases. Patients and methods: Two Egyptian cousins born to consanguineous parents presented with hoarseness of cry, painful swollen joint contractures, failure to thrive, diffuse thickening and hyperpigmentation of skin over bony prominences, and death before 2 years of age. Their initial differential diagnosis of Farber disease was ruled out because no pathogenic mutations were identified in the ASAH1 gene in either the proband or the parents. Accurate diagnosis in the affected was revealed as infantile systemic hyalinosis by exome sequencing, showing a homozygous pathogenic variant in the ANTXR2 gene. Conclusion: In the present work we highlight the need for molecular studies by next-generation sequencing for accurate diagnosis, prevention, and proper counseling when genetic diagnosis cannot be reached by other conventional methods.
    01/2015; 4(1):18-23. DOI:10.1097/01.MXE.0000457060.97665.02
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    • "hyperplasia is a common finding that may be severe enough to interfere with feeding, and may result in poor oral hygiene, infection and dental caries (Nofal et al., 2009). Musculoskeletal involvement in JHF is frequent, and flexion contracture of large joints is the most debilitating problem; most adolescents and adults become bedridden and die of infection (Slimani et al., 2011). It has been hypothesized that contractures result from infiltration of the capsules of the joints (S, 1992). "
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    ABSTRACT: Juvenile hyaline fibromatosis (JHF) is a rare, autosomal recessive disease characterized by early onset papulonodular skin lesions, soft tissue masses, joint contractures, gingival hypertrophy, stunted growth and osteolytic bone lesions. Histopathological examination of the cutaneous lesions is unique and characterized by an accumulation of an amorphous, hyaline material in the dermis with increased number of fibroblasts. Herein, we report an 11 year-old girl who presented with papulonodular lesions on the scalp, chin, ears, elbows, knees, back and perianal skin. She had gingival hypertrophy and contractures of the elbows, hips, knees and ankles.
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    ABSTRACT: Systemic hyalinosis is a rare autosomal recessive inheritance disease characterized by accumulation of amorphous, unidentified hyaline material in skin and other organs, which leads to papulonodular skin lesions, gingival hypertrophy, flexion contractures of the joints, and large subcutaneous tumors. It is composed of 2 allelic syndromes, infantile systemic hyalinosis and juvenile hyaline fibromatosis. Here we describe a patient with juvenile hyaline fibromatosis confirmed by clinical and histopathologic findings, and genetic analysis, which revealed a novel homozygous splice site mutation IVS14+1G→T on exon 14 in anthrax toxin receptor 2 gene.
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