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Paediatrics
Rare case of hyaline fibromatosis syndrome
  1. Ashok Kumar Gupta1,
  2. Amita Moriangthem2,
  3. Kirti Naranje3 and
  4. Anita Singh3
  1. 1Pediatrics, Dr. Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
  2. 2Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
  3. 3Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
  1. Correspondence to Dr Anita Singh; dranitasinghk{at}gmail.com

Abstract

Hyaline fibromatosis syndrome is a rare, progressive and fatal autosomal recessive disorder characterised by multiple subcutaneous skin nodules, osteopenia, joint contractures, failure to thrive, diarrhoea and frequent infections. There is diffuse deposition of hyaline material in the skin, gastrointestinal tract, muscle and endocrine glands. The disease is often underdiagnosed since infants affected with the disease pass away early prior to establishing a final diagnosis. We describe an infant presenting with failure to thrive, progressive severe joint contractures and skin changes. Clinical exome sequencing revealed homozygous novel missense variation in exon 3 of the anthrax toxin receptor 2 gene confirming the diagnosis.

  • Genetics
  • Neonatal intensive care
  • Congenital disorders

https://doi.org/10.1136/bcr-2024-260969

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    Footnotes

    • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: AS, AKG, KN, AM. The following authors gave final approval of the manuscript: AS, AKG, KN, AM.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.