Juvenile hyaline fibromatosis: A report of two severe cases

Bedford, Christopher; Sills, J. A.; Sommelet-Olive, D.; Boman, Françoise; Beltramo, F.; Cornu, Guy

doi:10.1016/s0022-3476(05)82053-0

Cited by 44 publications

(45 citation statements)

References 15 publications

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“…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: 62%

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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: 62%

“…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%

Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients

Mancini¹,

Stojanov

Willemsen³

et al. 1999

Dermatology

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“…Surgical and orthopedic proce dures can be considered [4. 14.20,21], Intralesional steroid injections [10] and also proteolytic enzymes [28] have been tried without definitive results.…”

Section: Pathology Findingsmentioning

confidence: 99%

Juvenile Hyaline Fibromatosis with Skull-Encephalic Anomalies: A Case Report and Review of the Literature

et al. 1993

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“…ISH has an early onset of symptoms, which appear shortly after birth or even antenatally, with reduced fetal movements and prenatal growth retardation [Bedford et al, 1991;Glover et al, 1991;Stucki et al, 2001]. Protein losing enteropathy has been reported, but we could not document it in our first patient who presented with severe diarrhea and hyalinosis of the intestinal lamina propria.…”

Section: Discussionmentioning

confidence: 67%

“…Glover et al [1991Glover et al [ , 1992 reported six ISH patients, one of them having clinical overlap with JHF; although the pathological findings were identical, they suggested that both conditions could be variants of the same condition. Since then other patients have been reported with the same condition, some as ISH [Sahn et al, 1994;Stucki et al, 2001] but others as severe cases of JHF [Nezelof et al, 1978;Kan and Rogers, 1989;Bedford et al, 1991;Gilaberte et al, 1995;Lubec et al, 1995;Winik et al, 1998 and Case 1 of Mancini et al, 1999]. The patient presented by Shehab et al [1995] and then by Huntchinson [1996] shows an overlap between the two syndromes with early onset, as seen in ISH but later manifestations close to those seen in JHF.…”

Section: Discussionmentioning

confidence: 97%

Infantile systemic hyalinosis: A clinicopathological study

Criado

González‐Meneses

Cañadas

et al. 2004

American J of Med Genetics Pt A

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Infantile systemic hyalinosis (ISH) is a presumed autosomal recessive connective tissue condition. Symptoms usually begin at birth or shortly thereafter, and are characterized by pain when handled, painful and swollen joints and, later on, dermal anomalies, diarrhea, failure to thrive and recurrent infections, which usually lead to death around the age of 2. The skin has generally diminished elasticity with small pearly papules appearing on neck, ears, coccygeal region, and face. We present two unrelated patients with ISH, with specific focus on clinical and pathologic studies. In the first patient the diagnosis was made several years after she died, in a retrospective study of her clinical file. On ultrastructural examination both patients showed an accumulation of fibrillogranular material in the extracellular matrix with long-spacing collagen of 90 nm. The first child died at the age of 1(1/2) years and the second at 3 years.

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Juvenile hyaline fibromatosis: A report of two severe cases

Cited by 44 publications

References 15 publications

Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients

Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients

Juvenile Hyaline Fibromatosis with Skull-Encephalic Anomalies: A Case Report and Review of the Literature

Infantile systemic hyalinosis: A clinicopathological study

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