Dermatological findings in an adult patient with juvenile hyaline fibromatosis

Fetisovová, Z; Adamicová, Katarína; Péč, Martin; Mellová, Yvetta; Chromej, I.; J, Péc

doi:10.1046/j.1468-3083.2003.00614_4.x

Cited by 8 publications

(6 citation statements)

References 10 publications

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“…Keser et al [8] were the Wrst to report musculoskeletal abnormalities in adulthood, in two severely aVected siblings with extensive destruction of the hips, the shoulder and distal joints. Fetisovova et al [2] reported similar osteolytic lesions on large joints and distal phalanges. Kawasaki et al [9] reported the association of calciWcations in the subcutaneous tumors and erosions of the humerus and femur.…”

Section: Discussionmentioning

confidence: 85%

“…To our knowledge, only ten cases of JHF have been reported in adults in English literature [2,[7][8][9][10][11][12][13][14], among which 4 reports described X-ray aspects [2,[8][9][10], always abnormal, in contrast to children in whom normal aspect on X-ray studies is not infrequently observed [13,16,17]. Keser et al [8] were the Wrst to report musculoskeletal abnormalities in adulthood, in two severely aVected siblings with extensive destruction of the hips, the shoulder and distal joints.…”

Section: Discussionmentioning

confidence: 99%

“…Skin lesions, although unaesthetic, are asymptomatic. Musculoskeletal involvement in JHF is frequent, and Xexion contracture of large joints is the most debilitating problem; most adolescents and adults become bedridden and die of infection; the oldest reported case was 51 years old [2]. Skeletal manifestations, rarely reported in adults, include phalangeal osteolysis, cortical erosions of long bones and osteoporosis [3].…”

Section: Introductionmentioning

confidence: 99%

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Juvenile hyaline fibromatosis: focus on radiographic features in adulthood

Slimani¹,

Haddouche²,

Haid³

et al. 2010

Rheumatol Int

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Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive hereditary disorder (less than 80 cases reported), characterized by multiple nodular lesions on the skin and musculoskeletal involvement, very debilitating because most adolescents and adults become bedridden. Only 10 cases have been reported on JHF in adulthood. We report the case of a 34-year-old male patient in whom clinical and histological findings were consistent with a mild JHF and focus on the radiographic features. The main purpose of this report is to increase the information available related to the radiographic manifestations and prognosis of JHF.

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Section: Discussionmentioning

confidence: 85%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Juvenile hyaline fibromatosis: focus on radiographic features in adulthood

Slimani¹,

Haddouche²,

Haid³

et al. 2010

Rheumatol Int

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“…Enhanced CT has revealed dye uptake in the submandibular and cervical lymph nodes bilaterally [42]. Brain CT has shown small ischemic regions in the right periventricular aspect, mild brain atrophy and extracranial tumor masses in the soft tissues of the right peritemporal and occipital aspects [47]. …”

Section: Discussionmentioning

confidence: 99%

“…Laboratory examination may demonstrate a normal [22, 42, 57, 58] or abnormal aspect, such as an elevation of the Erythrocyte Sedimentation Rate (ESR) [47, 51, 59], thrombocytosis [60], mild anemia [4, 47, 51], or an elevation of serum albumin [61] or alkaline phosphatase [62]. …”

Section: Discussionmentioning

confidence: 99%

Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome

et al. 2017

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BackgroundHyaline fibromatosis syndrome (HFS) is a recently introduced alternative term for two disorders that were previously known as juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH). These two variants are secondary to mutations in the anthrax toxin receptor 2 gene (ANTXR2) located on chromosome 4q21. The main clinical features of both entities include papular and/or nodular skin lesions, gingival hyperplasia, joint contractures and osteolytic bone lesions that appear in the first few years of life, and the syndrome typically progresses with the appearance of new lesions.MethodsWe describe five Lebanese patients from one family, aged between 28 and 58 years, and presenting with nodular and papular skin lesions, gingival hyperplasia, joint contractures and bone lesions. Because of the particular clinical features and the absence of a clinical diagnosis, Whole Genome Sequencing (WGS) was carried out on DNA samples from the proband and his parents.ResultsA mutation in ANTXR2 (p. Gly116Val) that yielded a diagnosis of HFS was noted.ConclusionsThe main goal of this paper is to add to the knowledge related to the clinical and radiographic aspects of HFS in adulthood and to show the importance of Next-Generation Sequencing (NGS) techniques in resolving such puzzling cases.

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Cutaneous deposits

Weedon

2010

Weedon's Skin Pathology

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Dermatological findings in an adult patient with juvenile hyaline fibromatosis

Cited by 8 publications

References 10 publications

Juvenile hyaline fibromatosis: focus on radiographic features in adulthood

Juvenile hyaline fibromatosis: focus on radiographic features in adulthood

Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome

Cutaneous deposits

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