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
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
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 ...