This 38-year-old caucasian woman had had yellow, pebbly skin lesions in the axillae (Fig 1), antecubital fossae (Fig 2) and around the neck since the age of six. She now presents with a several-year history of chest pain. Her only known risk factor for atherosclerosis is hypertension. Physical examination is notable for skin findings and angioid streaks in the fundi (Fig 3, arrows). What is the diagnosis?
b) cutis laxa
c) pseudoxanthoma elasticum
d) Ehlers-Danlos syndrome
Answer: The diagnosis is (c), pseudoxanthoma elasticum
Pseudoxanthoma elasticum (PXE) is a disease characterized by fragmentation and calcification of elastic fibers in skin, blood vessels and the retina. Both autosomal dominant and recessive forms have been described, but the basic defect is unknown. The diagnostic skin findings are pebbly, infiltrative, yellowish lesions typically found in the axillary folds, inguinal areas, antecubital fossae, and around the neck. The skin is loose, coarse, and thickened in these regions. You may find . The range of the information represented there is wide enough to be read and applied in different situations.
In addition to the cutaneous findings, PXE has several other cardinal features including angioid streaks, chorioretinal scarring, gastrointestinal hemorrhage, and premature atherosclerosis. Prominent vascular and visceral involvement can occur with minimal skin findings. The peripheral vascular disease has an unusual predilection for the upper extremities. Hypertension is common and is usually due to renal artery atherosclerosis.
A common cardiac manifestation of PXE is premature coronary atherosclerosis. Angina and myocardial infarctions have been reported in patients less than 20 years old. Valvular heart disease is also common, including mitral valve prolapse which is detected in over 70 percent of patients. This patient had classic skin and retinal findings of PXE. A skin biopsy showed fragmentation of elastic fibers and confirmed the diagnosis. Her chest discomfort, which had both typical and atypical features of angina, was difficult to manage.
Cardiac catheterization revealed two etiologies of chest pain. She was found to have severe inoperable three-vessel coronary artery disease, as well as mitral valve prolapse. Antianginal and antihypertensive therapy was begun, with marked improvement in her symptoms.
Although the skin lesions in PXE resemble xanthomas (hence, pseudoxanthoma) there is usually little difficulty in excluding a hyperlipidemic state. True xanthomas have a predilection for extensor surfaces, tendons, ligaments, and pressure points. Patients with xanthomas usually have elevated levels of triglycerides and/or cholesterol. Hyperlipidemic patients, like those with PXE, frequently present with premature atherosclerosis.
Patients with cutis laxa have more pronounced sagging of the skin than those with PXE. They have redundant, excessively wrinkled skin and appear prematurely aged. These patients also lack the characteristic yellow skin lesions of PXE. Cardiopulmonary manifestations include aortic stenosis, peripheral pulmonary artery stenosis, and severe emphysema.
There are many varieties of the Ehlers-Danlos syndrome which share features including hyperextensibility of skin and joints, poor wound healing, and fragility of large blood vessels and viscera. Cardiac findings include arterial rupture, mitral and tricuspid valve prolapse, great vessel dilatation, congenital heart defects and conduction abnormalities.