Hyaline Fibromatosis Syndrome: Report and Literature review of a Rare and Fatal Genetic Disorder

Kinikar, Aarti; Kulkarni, Rajesh; Prasad, B. V. Sai; Nair, G Lakshmi Prasad Rajesh; Vartak, Sagar

doi:10.7199/ped.oncall.2019.47

Cited by 3 publications

(4 citation statements)

References 9 publications

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“…Hyaline fibromatosis syndrome (HFS) is a rare autosomal recessive disorder characterized by abnormal deposition of amorphous hyaline material in the dermis and other tissues 1 . Histopathological examination of skin lesions shows amorphous eosinophilic substance in the dermis with interspersed spindle-shaped fibroblasts 1 . It presents with papular and nodular skin lesions in the scalp, face, ears, neck, hands, feet, and perianal regions 1 .…”

Section: Introductionmentioning

confidence: 99%

“…Histopathological examination of skin lesions shows amorphous eosinophilic substance in the dermis with interspersed spindle-shaped fibroblasts 1 . It presents with papular and nodular skin lesions in the scalp, face, ears, neck, hands, feet, and perianal regions 1 . Molecular testing shows a mutation in the anthrax toxin receptor 2 (ANTXR2) gene.…”

Section: Introductionmentioning

confidence: 99%

“…also known as the capillary morphogenesis gene 2 (CMG2) located on chromosome 4q21 2 . The clinical severity is variable, mild forms seen during early childhood being known as juvenile hyaline fibromatosis (JHF) and severe forms, seen during infancy, as infantile systemic hyalinosis (ISH) 1 . Less than 70 cases of JHF and 20 cases of ISH have been reported worldwide 1 .…”

Section: Introductionmentioning

confidence: 99%

“…The clinical severity is variable, mild forms seen during early childhood being known as juvenile hyaline fibromatosis (JHF) and severe forms, seen during infancy, as infantile systemic hyalinosis (ISH) 1 . Less than 70 cases of JHF and 20 cases of ISH have been reported worldwide 1 . The two variants, ISH and JHF, represent different degrees of severity of the same disease 2,3 .…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Infantile systemic hyalinosis: Report of a rare inherited disorder from Northern India

Banerjee¹,

Reddy²,

Kumar

2023

Sri Lanka J Child Health

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Infantile systemic hyalinosis: Report of a rare inherited disorder from Northern India

Banerjee¹,

Reddy²,

Kumar

2023

Sri Lanka J Child Health

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Hypercalcemia as a rare presentation of hyaline fibromatosis syndrome from different Sudanese families: two case reports

Ismail¹,

Musa

Hassan³

et al. 2023

J Med Case Reports

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Background Hyaline fibromatosis syndrome is a rare progressive autosomal recessive connective tissue disorder caused by a mutation in the ANTXR2/CMG2 gene. According to its severity, patients may present with skin nodules or visceral infiltration, which carries a poor prognosis. Hypercalcemia has not been reported as a presenting feature of this syndrome. Stimulation of osteoclasts by inflammatory factors and immobilization-induced hypercalcemia have played role in the pathophysiology. To our knowledge, this is the first report of hypercalcemia-associated hyaline fibromatosis syndrome. Case presentation Here, we describe cases of two Sudanese patients, a boy aged 9 months and a girl aged 3.5 years with hypercalcemia as an associated presenting feature of hyaline fibromatosis syndrome. Other features include gingival hypertrophy, painful joint swellings, and restriction of movement, which was misdiagnosed as juvenile rheumatoid arthritis. Workup showed normal phosphate, normal to mildly elevated parathyroid hormone, low vitamin D 25. Genetic testing confirmed the mutation of the ANTXR2/CMG2 gene. Both patients responded well to medical therapy for hypercalcemia, but one of them with the severe form of juvenile hyaline fibromatosis died due to sepsis, while the other one has maintained normocalcemic status. Conclusions These cases highlight the rare presentation of this syndrome and reflect the importance of biopsy and genetic testing in reaching the diagnosis, especially when the clinical presentation can mimic other inflammatory bone disorders. Calcium levels should be checked in such cases.

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Overlapping Hyaline Fibromatosis Syndrome: A Rare Case of Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis

Oswal¹,

Prasad²,

Manohar³

et al. 2022

Cureus

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Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISF) are rare progressive, fatal autosomal recessive fibromatosis disorders that are characterized by the deposition of hyaline in various tissues. Mutations in capillary morphogenesis gene 2 are responsible for both of these conditions. These disorders usually present with fleshy, papular lesions, joint contractures, gingival hyperplasia, and persistent diarrhoea. An 18-month-old boy presented with multiple scalp abscesses, facial nodules, gingival hypertrophy, hypertrophic verrucous plaques and joint contractures with unique dermoscopic features and a history of recurrent diarrhoea and infections. Histopathological examination following skin biopsy revealed deposition of hyaline in the stroma and subcutaneous tissues. JHF is a differential diagnosis in children who present with multiple scalp nodules. Here, we report the case of overlapping features of JHF and ISH. The evolution of this case provides a special opportunity to further understand the pathogenesis and clinical characterization of hyaline fibromatosis syndrome.

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Hyaline Fibromatosis Syndrome: Report and Literature review of a Rare and Fatal Genetic Disorder

Cited by 3 publications

References 9 publications

Infantile systemic hyalinosis: Report of a rare inherited disorder from Northern India

Infantile systemic hyalinosis: Report of a rare inherited disorder from Northern India

Hypercalcemia as a rare presentation of hyaline fibromatosis syndrome from different Sudanese families: two case reports

Overlapping Hyaline Fibromatosis Syndrome: A Rare Case of Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis

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