Infantile Systemic Hyalinosis in a Black Infant

Sahn, Eleanor E.; Salinas, Carlos F.; Sens, Mary Ann; Key, Janice D.; Swiger, Frederick K.; Holbrook, Karen A.

doi:10.1111/j.1525-1470.1994.tb00076.x

Cited by 31 publications

(30 citation statements)

References 20 publications

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“…This suggests an intracellular block of (aberrant) macromolecule secretion. Very similar aberrations have been described earlier [5, 8, 9], along with dilated cisternae of the rough endoplasmic reticulum and hyperactive Golgi stacks [3, 5, 8, 9, 11, 12, 15, 16, 19, 22]. However, some of these intracellular abnormalities do not seem specific for the hyalinosis syndromes but are also observed in other syndromes characterized by osteolysis [24, 25, 26].…”

Section: Discussionmentioning

confidence: 53%

“…However, distinctive abundant multivesicular bodies in dermal fibroblasts of an ISH patient have been described [5]. Clearly, it is not possible on clinical grounds to prove whether JHF and ISH are or not different expressions of the same disorder.…”

Section: Discussionmentioning

confidence: 99%

“…Exceptionally, bone lesions are limited to nodular infiltration of distal phalanges which produce punched-out osteolysis [12]. At the severe end of the spectrum are the cases with features overlapping ISH [2, 3, 4, 5]. It has been suggested that ISH represents a severer form of the same condition [9, 14, 15, 16, 17].…”

Section: Discussionmentioning

confidence: 99%

“…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%

“…The main clinical manifestations of ISH and JHF are papular and nodular skin lesions, gingival hyperplasia, joint contracture and various degrees of bone involvement. In addition, ISH is distinguished from JHF by the presence of visceral (intestinal, cardiac, hepatic, splenic, thyroidal) involvement [4]and a rapid fatal outcome [3, 4, 5]. The skin is usually thick and stiff.…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

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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Section: Discussionmentioning

confidence: 53%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients

Mancini¹,

Stojanov

Willemsen³

et al. 1999

Dermatology

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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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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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Infantile Systemic Hyalinosis in a Black Infant

Cited by 31 publications

References 20 publications

Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients

Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients

The Stiff Skin Syndrome

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

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