Unilateral progressive osseous heteroplasia
Author(s) -
Felicidade Santiago,
Ricardo Vieira,
Margarida Robalo Cordeiro,
Óscar Tellechea,
Américo Figueiredo
Publication year - 2009
Publication title -
european journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.48
H-Index - 71
eISSN - 1952-4013
pISSN - 1167-1122
DOI - 10.1684/ejd.2009.0634
Subject(s) - medicine , gnas complex locus , trunk , family history , osteoma , cutis , pathology , anatomy , surgery , gene , genetics , biology , ecology
A 50-year-old male patient presented with firm subcutaneous nodules and plaques with a gritty texture, unilaterally affecting the left side of the trunk and the left limbs. These lesions had had a progressive course since early childhood and caused functional impairment. There was no family history of similar disorders. No phospho-calcium metabolism abnormalities were observed. Biopsies of the affected areas demonstrated osteoma cutis. Analysis of DNA showed no mutation of the GNAS gene. The clinical features were consistent with progressive osseous heteroplasia, atypically presented in a unilateral form, probably revealing a mosaic distribution.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom