Juvenile hyaline fibromatosis

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Juvenile hyaline fibromatosis
Other namesPuretic syndrome[1]
Autosomal recessive - en.svg
Autosomal recessive pattern is the inheritance manner of this condition
SpecialtyDermatology

Juvenile hyaline fibromatosis (also known as "Fibromatosis hyalinica multiplex juvenilis,"[2] "Murray–Puretic–Drescher syndrome"[2]) is a very rare, autosomal recessive disease due to mutations in capillary morphogenesis protein-2 (CMG-2 gene). It occurs from early childhood to adulthood, and presents as slow-growing, pearly white or skin-colored dermal or subcutaneous papules or nodules on the face, scalp, and back, which may be confused clinically with neurofibromatosis.[3]

Presentation[edit]

This condition is characterised by abnormal growth of hyalinized fibrous tissue with cutaneous, mucosal, osteoarticular and systemic involvement.

Clinical features include extreme pain at minimal handling in a newborn, gingival hypertrophy, subcutaneous nodules, painful joint stiffness and contractures, muscle weakness and hypotonia.

Genetics[edit]

This condition is due to mutations in the anthrax toxin receptor-2 (ANTXR2) gene. This gene is also known as capillary morphogenesis protein-2.

This gene is located on the long arm of chromosome 4 (4q21.21).

Management[edit]

There is no presently known curative treatment for this condition.[citation needed]

Management is supportive

Prognosis[edit]

This is very poor with a median age at death of 15 months.

Epidemiology[edit]

84 cases have been reported as of 2018.[4]

See also[edit]

References[edit]

  1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Juvenile hyaline fibromatosis". www.orpha.net. Retrieved 28 April 2019.
  2. ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  3. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). Page 989. McGraw-Hill. ISBN 0-07-138076-0.
  4. ^ Casas-Alba D, Martínez-Monseny A, Pino-Ramírez RM, Alsina L, Castejón E, Navarro-Vilarrubí S, Pérez-Dueñas B, Serrano M, Palau F, García-Alix A (2018) Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations. Hum Mutat doi: 10.1002/humu.23638

External links[edit]

Classification
External resources