Myofibromatosis presenting as reticulated vascular changes and subcutaneous atrophy in a patient with somatic mosaicism of PDGFRB mutation

Br J Dermatol. 2018 Dec;179(6):1408-1409. doi: 10.1111/bjd.16995. Epub 2018 Sep 19.

Authors

C S Zhong¹, H Song¹, A Weiss², W-H Tan³, S Coury³, J T Huang⁴

Affiliations

¹ Harvard Medical School, 50 Staniford Street 2nd Floor, Boston, MA, 02114, U.S.A.
² Department of Pediatric Hematology/Oncology, Maine Medical Center, Scarborough, ME, U.S.A.
³ Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, U.S.A.
⁴ Department of Immunology, Dermatology Program, Boston Children's Hospital, Boston, MA, U.S.A.

PMID: 29999524
DOI: 10.1111/bjd.16995

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Atrophy / genetics
Atrophy / pathology
Biopsy
DNA Mutational Analysis
Exome Sequencing
Humans
Infant
Male
Mosaicism
Myofibromatosis / congenital*
Myofibromatosis / diagnosis
Myofibromatosis / genetics
Myofibromatosis / pathology
Myofibromatosis / surgery
Receptor, Platelet-Derived Growth Factor beta / genetics*
Skin / blood supply
Skin / pathology
Skin Neoplasms / diagnosis*
Skin Neoplasms / genetics
Skin Neoplasms / pathology
Skin Neoplasms / surgery
Subcutaneous Tissue / pathology*
Telangiectasis / diagnosis*
Telangiectasis / genetics
Telangiectasis / pathology
Telangiectasis / surgery
Treatment Outcome

Substances

PDGFRB protein, human
Receptor, Platelet-Derived Growth Factor beta

Supplementary concepts

Fibromatosis, Congenital Generalized