ABSTRACT
BACKGROUND: PHACE syndrome is a neurocutaneous disease of unknown etiology. It consists of the association of a large hemangioma in the face or neck combined with one or more abnormalities in other parts of the body. A syndrome that is little known in world literature is reported and the musculoskeletal alterations that it involves are described. CLINICAL CASE: Female patient, 8 years and 9 months old, with diagnosis of PHACE syndrome and the following alterations: sunken chest, hemangiomas in the right paraciliary and left mandibular regions, and in the anterior and posterior right thigh with leg length discrepancy. Treatment consisted of braces and the patient was scheduled for lengthening surgery by means of monofocal callotaxis. DISCUSSION: The reported findings include the combined vascular malformations located in the extremities, which may be complicated by thrombophlebitis, regional osteolysis and even thromboembolism. Face and body capillaries are prone to darkening; there is propensity to skin hyperplasia and gradual hypertrophy of the underlying soft tissues and the skeleton. The percentage of reported cases of hemangiomas of the bones, spleen or kidneys is 6% or less. PHACE syndrome is little known in world literature, as we only found 71 papers in the following databases: Pubmed, Embase, Medigraphic, Lilacs, Artemisa. CONCLUSIONS: Reporting the musculoskeletal alterations that occurred with this syndrome in the case presented herein represents a contribution to orthopedic knowledge.
