Open AccessThe “Phantom of the Opera” sign of craniofacial fibrous dysplasia with unilateral polyostotic involvement in McCune-Albright syndrome
Author(s) -
W. Phillip Law,
P. C. Jackson
Publication year - 2017
Publication title -
international journal of diagnostic imaging
Language(s) - English
Resource type - Journals
eISSN - 2331-5865
pISSN - 2331-5857
DOI - 10.5430/ijdi.v4n2p43
Subject(s) - polyostotic fibrous dysplasia , mccune–albright syndrome , fibrous dysplasia , gnas complex locus , medicine , skull , anatomy , pseudohypoparathyroidism , craniofacial , café au lait spot , precocious puberty , pathology , biology , parathyroid hormone , biochemistry , psychiatry , hormone , gene , neurofibromatosis , calcium
McCune-Albright syndrome is a very rare genetic disorder resulting from a sporadically occurring somatic \textit{GNAS} gene mutation. It is characterised by the association of: endocrinopathy (most commonly precocious puberty), polyostotic fibrous dysplasia, and cutaneous pigmentation with café-au-lait spots with edges resembling the coast of Maine. We present a case of McCune-Albright syndrome with unilateral polyostotic fibrous dysplasia including involvement of the skull and facial bones on one side resulting in an appearance on skeletal scintigraphy resembling the characteristic mask of the “Phantom of the Opera”.