Jaffe-Lichtenstein Syndrome

Very rare congenital genetic disorder characterized by bone lesions that can degenerate into sarcoma. Association with precocious puberty and other hormonal dysfunctions is possible.

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Fibrous Bone Dysplasia; Fibrous Osteoma.

Fewer than 100 cases reported in the literature.

Almost sporadic; familial cases have been described.

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 hypophosphatemia.

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 gonadosteroids).

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 pigmentation.