Hyalinosis infantile systemical E78.9

Last updated on: 09.04.2022

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Definition
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Infantile systemic hyalinosis(hyaline fibromatosis syndrome) is an autosomal recessive inherited disorder characterized by abnormal growth of hyalinized fibrous tissue.

Manifestation
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Initial manifestations occur in infancy and have additional visceral or systemic involvement, which can lead to early death. Accompanying symptoms are persistent diarrhea and increased susceptibility to infection. The massive nodular changes do not develop in this form.

Localization
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The disease mainly affects the subcutaneous regions of the scalp, ears, neck, face, hands and feet. The face, knees and elbows are particularly frequently affected. In many cases, gingival hyperplasia is detectable.

Note(s)
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It is difficult to classify infants or young children with a "hyaline fibromatosis syndrome" into an infantile or juvenile form. Infantile systemic hyalinosis is classified as a particularly severe variant of juvenile hyaline fibromatosis (for further discussion, see there). In this respect, some authors use the term "hyaline fibromatosis syndrome (HFS)" for both variants. Denadai et al (2012) proposed a 4-level classification system of the disease to reflect increasing severity, with grade 4 leading to early death due to severe clinical decompensation.

Literature
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  1. Casas-Alba D et al (2018) Hyaline fibromatosis syndrome: clinical update and phenotype-genotype correlations. Hum Mutat 39:1752-1763.
  2. Chaudhry C et al (2021) Novel variation in ANTXR2 gene causing hyaline fibromatosis syndrome: A report from India. Congenit Anom (Kyoto) 61:140-141.
  3. Denadai, R et al. (2012) Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system. Am J Med Genet 158A: 732-742.
  4. Dowling O et al (2003) Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet 73: 957-966.
  5. El-Kamah GY et al (2010) Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis. (Letter) Brit. J. Derm. 163: 213-215.
  6. Härter B et al. (2020) Clinical aspects of hyaline fibromatosis syndrome and identification of a novel mutation. Mol Genet Genomic Med 8: e1203.
  7. KitanoY et al. (1972) Two cases of juvenile hyaline fibromatosis: some histological, electron microscopic, and tissue culture observations. Arch Derm 106: 877-883.
  8. Rahman N et al (2002) The gene for juvenile hyaline fibromatosis maps to chromosome 4q21. Am J Hum Gene 71: 975-980.

Incoming links (1)

Hyalinoses;

Outgoing links (1)

Fibromatosis hyaline juvenile;

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

Last updated on: 09.04.2022