Infantile systemic hyalinosis

Infantile systemic hyalinosis
Other names: Juvenile systemic hyalinosis
Papulonodules on knuckles/metacarpophalangeal joints

Infantile systemic hyalinosis is characterized by multiple firm white small bumps in the skin of typically the head, face and ears of children.[1] Other symptoms include swelling of gums, osteolytic bone lesions and joint contractures.[1]

It is an allelic autosomal-recessive condition, in which there is hyaline deposition.[2]: 606 

Signs and symptoms

The clinical presentation of this condition is as follows:[3]

  • Brachydactyly
  • Camptodactyly of finger
  • Chronic diarrhea
  • Coarse facial appearance
  • Feeding problems
  • Gum enlargement
  • Immunodeficiency
  • Joint stiffness
  • Abnormal skull
  • Abnormality of gastrointestinal tract
  • Osteolysis
  • Progressive flexion contractures


Genetics

Infantile systemic hyalinosis is inherited in an autosomal recessive manner

This disease is caused by mutations in the CMG2 gene (ANTXR2).[4][5]

Diagnosis

The diagnosis of Infantile systemic hyalinosis is based on the following:[6][3]

  • Medical history
  • Symptoms
  • Physical exam
  • Laboratory test
  • Genetic test

Management

In terms of treatment for this condition the following is done:[3]

  • Physical therapy
  • Joint contractures
  • Splinting

See also

References

  1. 1 2 Johnstone, Ronald B. (2017). "14. Cutaneous depositse". Weedon's Skin Pathology Essentials (2nd ed.). Elsevier. p. 292. ISBN 978-0-7020-6830-0. Archived from the original on 2021-05-25. Retrieved 2022-09-28.
  2. ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  3. 1 2 3 "Hyaline fibromatosis syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 18 March 2021. Retrieved 26 October 2021.
  4. ↑ Vahidnezhad H, Ziaee V, Youssefian L, Li Q, Sotoudeh S, Uitto J (2015) Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 gene. Clin Exp Dermatol doi: 10.1111/ced.12616
  5. ↑ "Hyaline fibromatosis syndrome: MedlinePlus Genetics". medlineplus.gov. Archived from the original on 19 March 2021. Retrieved 26 October 2021.
  6. ↑ "Hyaline fibromatosis syndrome - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Archived from the original on 17 April 2021. Retrieved 26 October 2021.
Classification
External resources
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