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Juvenile hyaline fibromatosis


Source: http://en.wikipedia.org/wiki/Juvenile_hyaline_fibromatosis
Updated: 2017-06-19T10:54Z
Juvenile hyaline fibromatosis
Classification and external resources
Specialty{{#statements:P1995}}
ICD-10M72.8
OMIM228600
Patient UKJuvenile hyaline fibromatosis
MeSHD057770
Orphanet2028
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Juvenile hyaline fibromatosis (also known as "Fibromatosis hyalinica multiplex juvenilis,"[1] "Murray–Puretic–Drescher syndrome"[1]) 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.[2]

See also

References

  1. ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
  2. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). Page 989. McGraw-Hill. ISBN 0-07-138076-0.


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