Two cases of juvenile hyalin fibromatosis. Some histological, electron microscopic, and tissue culture observations

Kitano, Y.

doi:10.1001/archderm.106.6.877

Cited by 47 publications

(59 citation statements)

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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: Discussionsupporting

confidence: 75%

“…The frequently observed increase in MPS excretion [14, 19, 22]has been related to abnormalities in the biosynthesis of chondroitinsulphate and hyaluronic acid, which were reported in fibroblasts from a JHF patient [23]. We observed increased excretion of total MPS in patients 1 and 2, but normal sulphate incorporation in fibroblasts of both patients.…”

Section: Discussionsupporting

confidence: 63%

“…It has been proposed that recurrent infections and intestinal symptoms are distinguishing features of ISH and are responsible for the poor outcome [3]. However, a number of JHF patients died of fulminant pneumonia or sepsis-like disease within the first decade [8, 9, 18, 19]. …”

Section: Discussionmentioning

confidence: 99%

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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: Discussionsupporting

confidence: 75%

Section: Discussionsupporting

confidence: 63%

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Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients

Mancini¹,

Stojanov

Willemsen³

et al. 1999

Dermatology

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“…The other main difference between the two siblings was the presence of periarticular nodules, which were detected only in the older sibling. This feature corroborates the hypothesis, reported in literature, that HSF hyaline deposition in joints may be caused by movement-dependent fibroblasts activation with hyaline production, resulting both in flexion contractures and pain and periarticular nodules [5,16]. Our first patient, due to spastic tetraplegia, had severe limitation in movement and this condition could have probably influenced hyaline material deposition in articular and periarticular tissues.…”

Section: Discussionsupporting

confidence: 92%

“…In 1873, Murray was the first to describe a condition he termed Bmolluscum fibrosum^, later renamed by Kitano et al in 1972 as juvenile hyaline fibromatosis [4,5]. More recently, Denadai proposed to merge juvenile hyaline fibromatosis (OMIM 228600) and infantile systemic hyalinosis (OMIM 236490) into a single name, hyaline fibromatosis syndrome (HFS), because of the identification of genetic alterations in the same gene (CMG2 or ANTXR2) on chromosome 4q21 and because of the overlapping features of the two conditions [1, 6,7].…”

Section: Discussionmentioning

confidence: 99%

Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis): whole-body MR findings in two siblings with different subcutaneous nodules distribution

et al. 2017

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Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis) is a rare, progressive, autosomal recessive disorder whose main hallmark is the deposition of amorphous hyaline material in soft tissues, with an evolutionary course and health impairment. It may present involvement of subcutaneous or periskeletal soft tissue, or may develop as a visceral infiltration entity with poor prognosis. Very few radiological data about this inherited condition have been reported, due to the extreme rarity of disease. We herein present a case of two siblings, affected by different severity of the disease, with different clinical features. They were examined by wholebody MR (WBMR) in order to assess different lesions localization, to rule out any visceral involvement and any other associated anomalies and to define patients' management.

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New progeroid disorder

et al. 1997

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We report on a 10-year-old Caucasian male with a prematurely aged appearance, delayed bone maturation and dental development, pronounced acro-osteolysis with brachydactyly, and distinctive cutaneous findings including hard, confluent skin lesions with some clinical and histologic resemblance to those of juvenile hyaline fibromatosis (JHF). He also had hyperopia, sensorineural hearing loss, and elevated TSH. Linear growth and intellectual functions were normal. We believe that this patient represents a new progeroid disorder.

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Two cases of juvenile hyalin fibromatosis. Some histological, electron microscopic, and tissue culture observations

Cited by 47 publications

References 0 publications

Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients

Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients

Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis): whole-body MR findings in two siblings with different subcutaneous nodules distribution

New progeroid disorder

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