| Juvenile hyaline fibromatosis | |
|---|---|
| Other names | Puretic syndrome[1] |
 | |
| Autosomal recessive pattern is the inheritance manner of this condition | |
| Specialty | Dermatology |
Juvenile hyaline fibromatosis (also known as fibromatosis hyalinica multiplex juvenilis[2] and 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] The World Health Organization in 2020 reclassified the papules and nodules that occur in juvenile hyaline fibromatosis as one of the specific benign types of tumors in the category of fibroblastic and myofibroblastic tumors.[4]
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Juvenile hyaline fibromatosis". www.orpha.net. Retrieved 28 April 2019.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ 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.
- ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). Page 989. McGraw-Hill. ISBN 0-07-138076-0.
- ^ Sbaraglia M, Bellan E, Dei Tos AP (April 2021). "The 2020 WHO Classification of Soft Tissue Tumours: news and perspectives". Pathologica. 113 (2): 70–84. doi:10.32074/1591-951X-213. PMC 8167394. PMID 33179614.