Very rare congenital genetic disorder characterized by
bone lesions that can degenerate into sarcoma. Association with precocious
puberty and other hormonal dysfunctions is possible.
Facial asymmetry caused by Jaffe-Lichtenstein syndrome in a 14-year-old girl.
Fibrous Bone Dysplasia; Fibrous Osteoma.
Fewer than 100 cases reported in the literature.
Almost sporadic; familial cases have been
Caused by sporadic mutation of the GNAS1 gene that
encodes the alpha subunit of the stimulatory G protein (G1 medullary bone is
replaced by fibrous tissue, which appears radiolucent on radiographs).
Trabeculae of woven bone contain fluid-filled cysts that are embedded
largely in collagenous fibrous matrix.
Onset generally between the ages of 3 and 15 years;
clinically evocated by uneven growth, pain, brittleness, and deformity of
bone (particularly long bones).
May involve a single bone or multiple bones. Bone
manifestations are consequences of fibrous lesions that can lead to
pathologic fractures, limping, unequal limp length, chest deformity, skull
asymmetry, leontiasis-like appearance, scoliosis. Sarcomatous degeneration
has been described in approximately 0.5% of patients. Irregular macular
dermal pigmentation can be observed. Other features can include precocious
puberty, hyperthyroidism, Cushing disease, hyperparathyroidism, and
Because of the dysmorphism affecting
the lower part of the face, complete evaluation of the airway must be performed.
Complete evaluation of bone lesion repercussion and endocrine involvement
(clinical, laboratory investigation including alkaline phosphatases, calcemia,
phosphatemia, vitamin D levels, thyroid hormones, gonadotropin, and
Be prepared for difficult direct
laryngoscopy and tracheal intubation. Spontaneous respiration may have to be
maintained until the trachea is secured. Careful intraoperative positioning is
needed considering bone lesions and deformities. Hormonal involvement must be
stabilized before any scheduled procedure.
Succinylcholine probably should be
avoided considering risk of pathologic fractures during muscular fasciculations.
Perioperative fluid regimen must be adapted to hormonal status.
McCune-Albright Syndrome: Defined as the triad of
precocious puberty, polyostotic fibrous dysplasia, and cutaneous
Jaffé HL, Lichtenstein L: Fibrous dysplasia of bone. A condition
affecting one, several or many bones, the graver cases of which may present
with abnormal pigmentation of skin, premature sexual development,
hyperthyroidism or still other extraskeletal abnormalities. Arch Pathol