Infantile systemic hyalinosis: Case report and review of the literature

Lindvall, Lisa E.; Kormeili, Tanya; Chen, Elaine; Ramirez, Maria Celeste M.; Grum-Tokars, Valerie; Glucksman, Marc J.; Martignetti, John A.; Zaragoza, Michael V.; Dyson, Senait W.

doi:10.1016/j.jaad.2007.06.008

Cited by 44 publications

(24 citation statements)

References 24 publications

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“…Infiltration of the small intestine and colon, the most common form of systemic involvement, leads to malabsorption and protein-losing enteropathy with diarrhea, failure to thrive, and an increased susceptibility to infection. 10,11 Other organs that may be affected include the heart, trachea, esophagus, stomach, spleen, adrenal glands, thyroid, lymph nodes, and skeletal muscle. 11,12 Histopathological findings in JHF and ISH are characteristic and identical.…”

mentioning

confidence: 99%

Juvenile hyaline fibromatosis and infantile systemic hyalinosis: A unifying term and a proposed grading system

Nofal

Sanad

Assaf

et al. 2009

Journal of the American Academy of Dermatology

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mentioning

confidence: 99%

Juvenile hyaline fibromatosis and infantile systemic hyalinosis: A unifying term and a proposed grading system

Nofal

Sanad

Assaf

et al. 2009

Journal of the American Academy of Dermatology

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“…Other less common features include joint swelling, edema, saddle nose deformity, sunken eyes, pathologic fractures, rigidity of spine, respiratory distress, diarrhea, and protein-loosing enteropathy. 11 Symptoms often present within the first 6 months of life, and patients die of diarrhea, severe malnutrition, or infection. 11 In contrast, patients with JHF present with milder symptoms later in childhood and usually live until the second or third decade.…”

Section: Discussionmentioning

confidence: 99%

Systemic Hyalinosis With Heterozygous CMG2 Mutations

Rahvar

Teng

Kim³

2016

The American Journal of Dermatopathology

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Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive disorder characterized by hyalinizing fibrosis of the skin and internal organs. Clinical features include multiple papular skin lesions, gingival hyperplasia, joint contractures, and osteolytic bone lesions. The systemic variant of JHF, known as infantile systemic hyalinosis (ISH), has an early onset and poor prognosis. Histological examination of cutaneous lesions shows bland-appearing fibroblasts within amorphous eosinophilic hyaline depositions. JHF and infantile systemic hyalinosis form a clinical spectrum with higher mortality that is typically observed in systemic cases. Here, the authors present a case of systemic hyalinosis with a heterozygous mutation in CMG2 that resulted in improved survival.

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“…3,5 Estos niños pueden morir dentro de sus primeros meses de vida asociado a infecciones pulmonares y diarrea o pueden llegar hasta la edad adulta. 7,8 Los pacientes con SFH tienen un neurodesarrollo normal. 5,6 Nofal y col., 4 propusieron una clasificación para los pacientes con SFH en grados leve, moderado y grave, y posteriormente, Denadai y col., 5 la modificaron y agregaron el grupo letal.…”

Section: Discussionunclassified

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

et al. 2015

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RESUMENEl síndrome de fibromatosis hialina es una enfermedad autosómica recesiva rara, que se caracteriza por la presencia de contractura y dolor articular, placas y nódulos hiperpigmentados e hipertrofia gingival, producto de la acumulación de un material amorfo hialino similar al colágeno tipo VI en diferentes tejidos. Esta enfermedad incluye el síndrome de hialinosis sistémica y la fibromatosis hialina juvenil, dos entidades que, durante años, fueron consideradas de manera separada; sin embargo, las características clínicas y la edad de presentación se superponen. Además, ha sido documentado que la causa de ambas entidades se localiza en un mismo gen. Se presentan dos casos de hermanas de una misma familia colombiana afectadas por la enfermedad. Palabras clave: síndrome de fibromatosis hialina, contractura articular, hipertrofia gingival. ABSTRACTHyaline fibromatosis syndrome is a rare autosomal recessive disease characterized by the presence of contracture and joint pain, hyperpigmented plaques and nodules and gingival hypertrophy. These findings are the result of the accumulation of a hyaline amorphous material similar to collagen type VI in different tissues. This syndrome includes systemic hyalinosis and juvenile hyaline fibromatosis, two entities that for years were considered separately. However, it has been documented that the cause of both entities is located in the same gene and the clinical features and age of presentation are overlapped. In this study two cases of sisters from a same colombian family affected by the disease are presented.

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Infantile systemic hyalinosis: Case report and review of the literature

Cited by 44 publications

References 24 publications

Juvenile hyaline fibromatosis and infantile systemic hyalinosis: A unifying term and a proposed grading system

Juvenile hyaline fibromatosis and infantile systemic hyalinosis: A unifying term and a proposed grading system

Systemic Hyalinosis With Heterozygous CMG2 Mutations

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

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