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Genetic disorder resulting in progressive skin, heart, bone, and joint abnormalities.

Only one case report describing two brothers with the syndrome has been published.

Unclear, but postulated to be either autosomal recessive or X-linked recessive. The two brothers were the offspring of healthy parents from a small Italian village, and consanguinity was denied.

Involvement of the skin, bone, joints, and heart suggests a disorder of proteins of the extracellular matrix. Laboratory studies demonstrated that fibroblast production of collagen type I was normal, but other disorders of the protein matrix of connective tissue may exist.

Clinical and radiologic findings consistent with the syndrome (see Clinical Aspects). Biochemical and pathologic studies excluded known metabolic diseases. Skin biopsy shows chronic dermatitis with fibrosis, hyalinosis, metaplastic ossification, and infundibular follicular cysts. Gingival biopsy demonstrates fibromatosis. The diagnosis was made within the first year of life. In the clinical course, one brother is still alive at the age of 36 years with medically controlled heart failure. The second brother died at the age of 24 years as a consequence of progressive heart failure secondary to mitral valve prolapse.

Skin lesions include acne conglobata and thickening of the skin. Hypertelorism, low nasal bridge, subocular folds, prominent ears, teeth anomalies, and gingival hypertrophy result in a coarse facies. Musculoskeletal anomalies comprise osteolysis, kyphoscoliosis, brachydactyly, clinodactyly of the fifth finger, genu recurvatum, and flexion contractures of the large joints. Radiologic findings include vertebrae with reduced sagittal diameter, anterior beaking, and abnormalities consistent with Scheuermann osteochondritis. Feet and hands demonstrate osseous lacunae and cortical erosions. Mitral valve prolapse may lead to heart failure. Psychomotor and intellectual development are normal. Bilateral inguinal hernias were reported.

Assess cardiac function, flexion deformities, oral dentition, and gingival margins. Cardiac assessment should include a cardiac consultation with clinical examination, electrocardiogram, chest radiography, and echocardiography. Complete blood count and electrolytes (because of diuretic therapy) should be checked preoperatively.

Venous access may be difficult because of thickening of the skin. The limbs must be positioned carefully in the presence of flexion deformities with adequate padding and support at all pressure areas. The choice of induction and maintenance agents for anesthesia depends on the severity of the cardiac involvement. The basic aims in mitral valve prolapse with regurgitation should be to maintain preload, prevent bradycardia, limit myocardial depression, and reduce afterload, if possible. A narcotic technique using fentanyl with muscle relaxation and supplemental inhalational agent is preferable. In addition to standard anesthetic monitoring, depending on the extent of the surgical procedure, an arterial line, a Swan-Ganz catheter, and/or transesophageal echocardiography may be indicated.

Care should be taken when using agents that have significant effects on myocardial contractility and systemic vascular resistance. Routine cardiac medication should be continued perioperatively. Appropriate antibiotic endocarditis prophylaxis coverage should be administered.

Borrone C, Di Rocco M, Crovato F, et ...

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