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

Soni, Jai Prakash; Puri, Ratna Dua; Jetha, Kapil; Chaudhary, Monika; Kohli, Sudha; Verma, Ishwar C.

doi:10.1007/s12098-016-2218-8

Cited by 5 publications

(8 citation statements)

References 24 publications

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“…Feeding problems that arise due to oropharyngeal deformities and hyaline deposition such as gingival hyperplasia, thickening of the oral mucosa, and peri-oral stiffness lead to failure to thrive, as well as an increased risk of infections, which often proves fatal in the first few years of life. The lack of appropriate nutrient intake ultimately leads to increased bone fragility and fractures [ 1 , 7 , 8 , 11 , 12 ].…”

Section: Discussionmentioning

confidence: 99%

“…The phenotypic variety associated with both ISH and JHF is due to one causative mutation: a mutation in a protein called CMG2, which is encoded by the ANTXR2 gene [ 1 , 5 ]. CMG2 is a gene upregulated in endothelial cells to strongly bind to laminin and collagen IV, both of which are involved in capillary and basement membrane formation.…”

Section: Discussionmentioning

confidence: 99%

“…Infantile systemic hyalinosis (ISH) is a very rare, systemic disorder that is inherited in an autosomal recessive fashion. It is characterized by the widespread deposition of hyaline material, similar to collagen type VI, in multiple organs [ 1 , 2 ]. Affected tissues and organs can include the dermis, skeletal and cardiac muscle, thyroid, spleen, gastrointestinal tract, and adrenal glands.…”

Section: Introductionmentioning

confidence: 99%

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A Severe Case of Infantile Systemic Hyalinosis in an Asian Child: A Product of Consanguinity

Baroud¹,

Alawadhi²

2021

Cureus

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Infantile systemic hyalinosis (ISH) is a rare, autosomal recessive disorder characterized by widespread abnormal growth of hyalinized fibrous tissue in skin and mucosae. The typical clinical picture consists of the development of joint contractures, skin lesions, and severe, chronic pain. We report the case of a 2-year-old Pakistani girl, who presented to our clinic with papulonodular lesions, gingival hyperplasia, hypotonia, and joint contractures. Skin biopsy revealed hyaline deposits, and genetic testing revealed a mutation in the protein Anthrax toxin receptor 2 (ANTXR2).

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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A Severe Case of Infantile Systemic Hyalinosis in an Asian Child: A Product of Consanguinity

Baroud¹,

Alawadhi²

2021

Cureus

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“…El Cuadro 2 muestra la comparación de los casos clínicos descritos en la bibliografía con síndrome de fibromatosis hialina infantil, incluido el nuestro, con los principales datos clínicos de los pacientes. [21][22][23][24][25][26][27] La movilidad articular en pacientes con síndrome de fibromatosis hialina suele mejorar con la administración de penicilamina, 1,2 antiinflamatorios no esteroides, opiáceos y gabapentina para el tratamiento del dolor, además de fisioterapia. Algunos casos requieren tratamiento paliativo.…”

Section: Discussionunclassified

Síndrome de fibromatosis hialina: reporte de un caso y revisión bibliográfica

et al. 2019

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ANTECEDENTES: El síndrome de fibromatosis hialina es una enfermedad rara del tejido conectivo, con patrón de herencia autosómica recesiva, caracterizada por múltiples nódulos subcutáneos, en la piel, hipertrofia gingival, contracturas articulares, entre otras.CASO CLÍNICO: Paciente de 5 años, con antecedentes familiares de un hermano fallecido a los 2 años por bronconeumonía, con contracturas articulares desde el nacimiento, desviación cubital de ambos brazos y luxación de cadera, diagnosticado con artrogriposis múltiple congénita. El caso aquí expuesto, desde el nacimiento padeció contracturas, falta de extensión y flexión en los miembros superiores e inferiores, y desviación cubital en ambas manos. El primer año de vida manifestó lesiones papulares en el cuello y la región perianal, y lesiones nodulares subcutáneas en ambos pabellones auriculares, hipertrofia gingival, hiperpigmentación en los sitios de presión y protrusiones óseas a partir de los 2.5 años. A los 3 años acudió al Centro de Rehabilitación e Inclusión Teletón (CRIT) Estado de México, con diagnóstico de artrogriposis múltiple congénita. Las radiografías de las extremidades superiores e inferiores evidenciaron osteopenia generalizada y aumento de la radiolucencia en forma difusa. La biopsia de los nódulos auriculares subcutáneos reportó material hialino PAS positivo. Con base en los hallazgos clínicos se estableció el diagnóstico de síndrome de fibromatosis hialina. El tratamiento consistió en terapias físicas, ocupacionales, pulmonares y de lenguaje, con reacción favorable. Sus condiciones físicas generales empeoraron a partir de los 5 años; inició con artralgias severas, infecciones pulmonares recurrentes y diarrea de difícil control. Falleció a los 8 años por bronconeumonía adquirida en la comunidad.CONCLUSIONES: El diagnóstico inicial del síndrome de fibromatosis hialina se establece por los hallazgos clínicos. Es importante establecer el diagnóstico diferencial con artrogriposis múltiple congénita.

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“…Initially, it should be considered that, despite Casas-Alba et al (2018), Haidar et al (2017) and Soni et al (2016), point to the low life expectancy of people affected by ISH, the child who participated in this study, even taking into account the intensity of the problems presented by him, surpassed the prognosis of death at around 24 months of life.…”

Section: Considerations About Experienced Momentsmentioning

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

Cited by 5 publications

References 24 publications

A Severe Case of Infantile Systemic Hyalinosis in an Asian Child: A Product of Consanguinity

A Severe Case of Infantile Systemic Hyalinosis in an Asian Child: A Product of Consanguinity

Síndrome de fibromatosis hialina: reporte de un caso y revisión bibliográfica

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

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