Síndrome de fibromatosis hialina: reporte de dos casos de una misma familia

Rivera, Diego; Mendoza-Rojas, Víctor Clemente; Pérez, Cristhian; Contreras-García, Gustavo Adolfo

doi:10.5546/aap.2015.e264

Cited by 4 publications

(1 citation statement)

References 15 publications

(29 reference statements)

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“…The ISH has as the main characteristics the progressive joint contractures, cutaneous anomalies, severe chronic pain and generalized deposition of hyaline material in various tissues such as skin, skeletal muscle, heart muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, adrenal glands as well as persistent diarrhea with enteropathy, protein loss and recurrent infections with a very short life expectancy ( Casas-Alba et al., 2018 ; Haidar et al., 2017 ; Rivera et al., 2015 ).…”

Section: Introductionmentioning

confidence: 99%

The physical education and the Infantile Systemic Hyalinosis: A case report

Boato

Albuquerque²,

Nascimento³

et al. 2020

Heliyon

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The purpose of this case report is to present the case study of a child with Systemic Infantile Hyalinosis in the educational attendance specialized in Physical Education and Art (dance). The collection took place through the Teachers' Field Diary and the interview with the child's mother. The pedagogical intervention lasted 15 months and took place at the swimming and dance workshops at the Catholic University of Brasilia, with two weekly classes in each workshop lasting 30 min each. The intervention was based on Henri Wallon's theory of emotions and sought freedom of expression, body experience, and the discovery of a body marked by disease and, in many moments, disrespected in its possibilities. At the end of the intervention, mobility, and range of motion gains were observed in motor terms, which were compromised due to the instability caused by the progressive disease. However, there were significant gains regarding self-esteem, which were relevant and significantly contributed to a better quality of life of the child.

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Section: Introductionmentioning

confidence: 99%

The physical education and the Infantile Systemic Hyalinosis: A case report

Boato

Albuquerque²,

Nascimento³

et al. 2020

Heliyon

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Infantile Systemic Hyalinosis: Novel Founder Mutation in the Initiation Codon among “Malis (Farmers)” in Jodhpur

Soni

Puri²,

Jetha

et al. 2016

Indian J Pediatr

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Infantile systemic hyalinosis (OMIM 236490) is a progressive autosomal recessive disorder characterized by widespread deposition of hyaline material in many tissues leading to multiple subcutaneous skin nodules, gingival hypertrophy and joint contractures. The authors describe five children from four unrelated families, from the "mali (farmer)" community in Jodhpur, with the disorder. All of them had classical clinical features, and four died from severe infections between age of 7 mo to 3 y. Two affected children had the same, but novel mutation in the initiation codon, in homozygous form c.1 A > G; p. M1? in capillary morphogenesis protein-2 (CMG2), or ANTXR2 gene on chromosome 4q21.21. The other two parents had the same mutation in heterozygous form. It is likely that this is a founder mutation in this community.

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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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Síndrome de fibromatosis hialina: reporte de dos casos de una misma familia

Cited by 4 publications

References 15 publications

The physical education and the Infantile Systemic Hyalinosis: A case report

The physical education and the Infantile Systemic Hyalinosis: A case report

Infantile Systemic Hyalinosis: Novel Founder Mutation in the Initiation Codon among “Malis (Farmers)” in Jodhpur

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

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