Differentials
Cutis laxa
SIGNS / SYMPTOMS
Rare, inherited, or acquired connective tissue disorder characterized by degenerative changes in the elastic fibers resulting in loose, pendulous skin.
Skin is sagging, redundant, and stretchable, with reduced elastic recoil.
Internal organs are frequently involved. Pulmonary diseases such as pulmonary emphysema, cor pulmonale, and right-sided heart failure are often seen. Cardiovascular abnormalities include aortic aneurysm and pulmonary artery multiple branch stenosis.
INVESTIGATIONS
Clinical differentiation is usually sufficient.
Cultured cutis laxa dermal fibroblasts: increased elastolytic activity compared with healthy skin.
Skin biopsy: changes in the quantity or morphology of elastin with characteristic fragmentation or loss of elastic fibers and possible abnormal cross-linking of elastin.
Werner syndrome (progeria or pangeria)
SIGNS / SYMPTOMS
Characteristic clinical signs include short stature (<1.60 m), thin skin, muscle atrophy, wrinkling of the skin and aging of the face, a scleroderma-like appearance, loss of subcutaneous fat, loss of hair, and nail dystrophy.
Cataracts occur between 20 to 40 years of age. Osteoporosis, diabetes mellitus, neoplasias, hyperthyreosis, pituitary dysfunction, arteriosclerosis, soft-tissue calcification, hypogonadism or agonadism, and premature menopause are the most common features of the disease.
INVESTIGATIONS
Biopsy: histologic exam of the skin and subcutaneous tissue reveals thinning of the epidermis, loss of rete ridges, dermal fibrosis, and replacement of the subcutaneous fat with newly synthesized hyalinized collagen.
Xeroderma pigmentosum
SIGNS / SYMPTOMS
Rare autosomal disorder characterized by photosensitivity, pigmentary changes, premature skin aging, and malignant tumor development due to a cellular hypersensitivity to ultraviolet radiation.[39]
INVESTIGATIONS
Biopsy: initial histologic findings include hyperkeratosis and increased melanin pigment in the basal cell layer, elongation and atrophy of the rete ridges, and chronic inflammatory infiltrate in the upper dermis. Atrophy, hyperkeratosis, hyperpigmentation, and telangiectasias are more marked in the later stages. Architectural disorder and atypia are noted at the epidermis, and the dermis may be elastotic.
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