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Diseases of the skin frequently indicate, or associate with, diseases of the alimentary tract, the hepatobiliary system, the kidneys, and the cardiopulmonary system. Just as a full physical examination should be part of a full dermatologic assessment, it is important to examine the skin in a patient presenting with a systemic problem. This chapter is presented in the same order that a physician performing a full physical examination might approach the patient. The cutaneous manifestations that indicate internal disease are discussed for each step of the examination.
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Alterations in Skin Quality
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The presence of pallid, dry, rough, and scaly skin that is usually itchy in patients with malabsorption, chronic renal disease, or chronic hepatic disease is nonspecific. Asteatotic eczema may develop. Some patients itch without any visible abnormality of their skin.
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Ehlers–Danlos Syndrome
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Hyperelastic velvety skin that rebounds to the original position after being stretched, “cigarette-paper” scars, and hyperextensible joints are characteristic of the Ehlers–Danlos syndrome. Mitral and tricuspid prolapse, dilatation of the aorta and pulmonary artery, arterial rupture, myocardial infarction, and emphysema may accompany this syndrome (see Chapter 137).1
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Progressive looseness of the skin with pendulous folds and droopy eyelids may be associated with generalized hyperelastosis leading to aortic dilatation and rupture, congestive heart failure, or cor pulmonale with pulmonary artery stenosis and progressive emphysema (see Chapter 137).
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Pseudoxanthoma Elasticum
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The skin of patients with pseudoxanthoma elasticum (PXE) is thick, lax, and yellowish, especially over the axillae, antecubital area, and neck. Yellow patches may occur on mucous membranes, especially the labia. The alterations in the ABCC6 gene responsible for PXE may also lead to arteries becoming calcified, the aortic and mitral valves thickened, and cardiovascular symptoms, such as angina pectoris and claudication are frequent symptoms (see Chapter 137).2
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In Hutchinson–Gilford syndrome (progeria) and progeroid states such as Werner's syndrome, the skin appears atrophic and tight from a very early age. There is marked loss of subcutaneous tissue, with leg ulceration. Coronary atherosclerosis frequently leads to premature death by myocardial infarction (see Chapter 139).