Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients

Mancini, Grazia M.S.; Stojanov, L.; Willemsen, Rob; Kleijer, Wim J.; Huijmans, J.G.M.; Diggelen, O. P. van; Klerk, J. B. C. de; Vuzevski, V.D.; Oranje, Arnold P.

doi:10.1159/000018058

Cited by 56 publications

(49 citation statements)

References 21 publications

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“…4A) [a similar perivascular distribution has been observed by Bedford et al, 1991;Glover et al, 1991;Mancini et al, 1999] and in the upper corium, which gave the impression of widened vessel walls and thickened inter®brillary matrix. The same substance was seen in the endoplasmic reticulum of ®broblasts [as seen by Mancini et al, 1999]. This substance appeared to be interspersed with ®ne collagen ®brils of irregular orientation (Fig.…”

Section: Skin Histology and Ultrastructuresupporting

confidence: 75%

“…In a second biopsy at age eight months, histology was similar, while electron microscopy (EM) showed deposition of a largely amorphous substance around blood vessels (Fig. 4A) [a similar perivascular distribution has been observed by Bedford et al, 1991;Glover et al, 1991;Mancini et al, 1999] and in the upper corium, which gave the impression of widened vessel walls and thickened inter®brillary matrix. The same substance was seen in the endoplasmic reticulum of ®broblasts [as seen by Mancini et al, 1999].…”

Section: Skin Histology and Ultrastructuresupporting

confidence: 75%

“…However, overlap with the milder and usually non-lethal variant, JHF, may occur [Mancini et al, 1999]. Although Mancini et al [1999] excluded the diagnosis of ISH in their patient 1 because of survival beyond age 2, in our opinion this criterium should no longer be used, as improvement in clinical care may allow for prolonged survival even in patients with ISH and neonatal signs (as in our patients). There is, in our opinion, no criterium to distinguish reliably between severe JHF and ISH; the conditions may be part of a single spectrum.…”

Section: Discussionmentioning

confidence: 66%

“…The patients described in the literature died between the age of 10 months and three years, mostly due to recurrent chest infections and diarrhea [Landing and Nadorra, 1986;Glover et al, 1991]. However, overlap with the milder and usually non-lethal variant, JHF, may occur [Mancini et al, 1999]. Although Mancini et al [1999] excluded the diagnosis of ISH in their patient 1 because of survival beyond age 2, in our opinion this criterium should no longer be used, as improvement in clinical care may allow for prolonged survival even in patients with ISH and neonatal signs (as in our patients).…”

Section: Discussionmentioning

confidence: 99%

“…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: Skin Histology and Ultrastructuresupporting

confidence: 75%

Section: Skin Histology and Ultrastructuresupporting

confidence: 75%

Section: Discussionmentioning

confidence: 66%

Section: Discussionmentioning

confidence: 99%

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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The Stiff Skin Syndrome

Liu¹,

McCalmont²,

Frieden³

et al. 2008

Arch Dermatol

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Background: Stiff skin syndrome is a sclerodermalike disorder that presents in infancy or early childhood with rock-hard skin, limited joint mobility, and mild hypertrichosis in the absence of visceral or muscle involvement, immunologic abnormalities, or vascular hyperreactivity.Observations: We describe 6 children who fit criteria for stiff skin syndrome. A review of the clinical range of this disorder and discussion of the differential diagnosis is presented. The age at onset in our cases ranged from infancy to 6 years of age. Stony-hard skin was noted mostly on the thighs, buttocks, and lower back with shoulder and arm involvement in 2 cases. There was associated hypertrichosis in 3 of 6 cases. Extracutaneous manifestations consisted primarily of joint restriction, and several patients had resulting postural and thoracic wall ir-regularities. Histopathologically, our cases showed areas of fascial sclerosis or showed increased fibroblast cellularity with thickened, sclerotic, horizontally oriented collagen bundles in the deep reticular dermis and/or subcutaneous septa without associated inflammation.Conclusions: Stiff skin syndrome is characterized by an early, insidious onset of stony-hard skin, often with associated contracturelike joint restriction, hypertrichosis, and postural and thoracic wall abnormalities. Supportive histopathologic findings consisting of either fascial sclerosis or increased fibroblast cellularity with sclerotic collagen bundles in the deep reticular dermis and/or subcutaneous septa may help to confirm this diagnosis.

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