Juvenile hyaline fibromatosis: Two new patients and review of the literature

Fayad, Michel; Yacoub, Antoine; Salman, Salah D.; Khudr, Adèle; Kaloustian, Vazken M. Der; Opitz, John M.; Reynolds, James F.

doi:10.1002/ajmg.1320260119

Cited by 76 publications

(50 citation statements)

References 21 publications

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“…First mentioned by Murray in 1873 as``molluscum ®brosum'', Kitano et al [1972] introduced the term`j uvenile hyaline ®bromatosis'' in 1972. Since then, several reports have appeared [Remberger et al, 1985;Fayad et al, 1987;Kan and Rogers, 1989;O'Neill and Kasser, 1989]. Patients with JHF also have joint contractures, nodular skin lesions, which can grow into tumors of several centimeter diameter, gingival hypertrophy, and generalized osteopenia.…”

Section: Introductionmentioning

confidence: 98%

“…Similar to ISH, the mental development is normal. It is possible that ISH and JHF are based on the same pathological process, the former being a more severe form with early onset and death in infancy and the latter being the milder variant with a later onset and survival into adulthood [Remberger et al, 1985;Fayad et al, 1987;Kan and Rogers, 1989;O'Neill and Kasser, 1989;Mancini et al, 1999], but this remains speculative.…”

Section: Introductionmentioning

confidence: 99%

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Infantile systemic hyalinosis in siblings: Clinical report, biochemical and ultrastructural findings, and review of the literature

et al. 2001

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A boy presented at age 3.5 months with joint contractures, restlessness, and pain on handling. His skin was thickened and there were livid-red macular lesions over bony prominences. Infantile systemic hyalinosis (ISH) was diagnosed, a presumably autosomal recessive, progressive, and painful disorder of as yet unknown pathogenesis. Observation over three years confirmed the diagnosis as typical changes, such as nodules on both ears, pearly papules in the perinasal folds and on the neck, fleshy nodules in the perianal region, and gingival hypertrophy, developed. Skin lesions and painful joint contractures progressed in spite of intense physiotherapy, and at age 3, the child had marked motor disability. The central nervous system (CNS) appeared to be intact and the infant showed normal mental development. Radiologic findings included marked generalized osteopenia, osteolytic erosions in the metaphyses of the long bones, and cortical thinning. Electron microscopy of two skin biopsies demonstrated deposition of floccular amorphous substance that was abundant around, and appeared to originate from, small blood vessels in the dermis, partially interfering with collagen fiber formation. Lysosomal inclusions were not seen. Serum acid hyaluronidase activity was within the normal range, and the synthesis of hyaluronic acid and proteoglycans in cultured skin fibroblasts was similar to that of control cells. A younger sister presented at age two months with painful joint contractures and discrete livid-red macules over both malleoli, and showed a similar progression of the disorder over the first year of life. The diagnosis of ISH should be considered in infants and children presenting with painful joint contractures and skin lesions. The pathogenesis of this disabling and disfiguring disorder remains unclear. Our data confirm probable autosomal recessive inheritance, and do not support lysosomal storage, hyaluronidase deficiency, or a primary collagen disorder, but indicate that the amorphous material accumulating in the skin and articular soft tissues may originate from the blood circulation.

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Section: Introductionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

Infantile systemic hyalinosis in siblings: Clinical report, biochemical and ultrastructural findings, and review of the literature

et al. 2001

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“…Accumulation of amorphous, hyaline material has been recognized in two clinically distinct syndromes: infantile systemic hyalinosis (ISH) [3, 4, 5]and juvenile hyaline fibromatosis (JHF) [6, 7, 8, 9, 10, 11, 12, 13]. Clinically these disorders can be either limited to hyaline deposition in the skin and bone or may involve viscera to various degrees of severity.…”

Section: Introductionmentioning

confidence: 99%

Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients

Mancini¹,

Stojanov

Willemsen³

et al. 1999

Dermatology

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Background: Systemic hyalinoses are genetic generalized fibromatoses characterized by an accumulation of hyalin in the dermis. Two distinctive syndromes are recognized in the literature: infantile systemic hyalinosis (ISH) and juvenile hyaline fibromatosis (JHF). ISH and JHF are sometimes difficult to separate since they show significant overlap. Observations: We report on 3 children from two unrelated families suffering from JHF. The first child is severely handicapped by joint contracture, massive hyperplasia of the gingivae, diffuse skin papules and subcutaneous nodules occupying the scalp, face, perianal area, palms, soles and chest. At the same age, the second child only shows pearly skin papules on the face, groin and perianal area and gingival hyperplasia without joint stiffness or any other subjective complaint. The third patient, a brother of the second child, developed mild skin abnormalities by the end of the first year. The occurrence in siblings and consanguinity in the second family suggests autosomal recessive inheritance. Histological skin examination in the 3 cases showed hyaline deposition in the dermis and abnormal ultrastructure of fibroblasts. Biochemical findings showed mucopolysaccharide abnormalities in both families. Conclusion: Our patients do not only illustrate the different expressions of JHF but also show some overlap with ISH, suggesting a common cause for both disorders. Genetic studies will finally answer this question.

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“…It has been reported that ISH has a very poor prognosis since it results in death within the first two years of life (2,25,26). Both studied cases died by the age of two years due to recurrent respiratory infections.…”

Section: Discussionmentioning

confidence: 84%