Sclerodermalike Skin Changes

Skin changes were first clearly described in the patient series reported by Thannhauser, who distinguished changes in WS patients from those commonly seen in scleroderma patients or in patients with RothmundThomson syndrome (Thannhauser, 1945). The histologic appearance of skin biopsies from WS patients reveals an interesting mix of atrophic and proliferative changes. There is epidermal atrophy that extends to include skin appendages (e.g., hair follicles, sweat and sebaceous glands), in conjunction with focal hyperkeratosis and basal hypermelanosis. Dermal subcutaneous connective tissue atrophy is common, and often is found in conjunction with dermal fibrosis. Muscle, adipose, and connective tissue underlying the skin is often atrophic. This constellation of changes gives the skin a tight, white, and shiny or contracted appearance, with a loss of normal elasticity.

These cutaneous changes often are first seen and may be most prominent in the face and extremities. Skin changes in the face lead to a progressive sharpening of facial features to give patients what is often described as a pinched, beaked, or bird-like appearance (see the patient photo panel in Figure 3 of Goto, 2001). The lower extremities, especially the feet, are often markedly affected by these changes, leading to foot deformation, ulceration of nonpressure-bearing portions of the foot and ankles, and calcification of soft tissue and tendons (Hatamochi, 2001; Figure 80.1). Laryngeal changes consisting of a mix of proliferative and atrophic changes are likely responsible for the thin, high-pitched voice noted of many

Figure 80.1 Skin and soft tissue changes in Werner syndrome patients. A. Scleroderma-like skin changes, hyper-pigmentation and ulceration (arrow) of the lateral borderof the left foot in a male Japanese WS patient age 37. B. Localized calcification of the Achilles tendon (arrow) and plantar tendon insertion site calcification in a Japanese female WS patient age 54. Both photos were previously published (Hatamochi, 2001) and are used here with kind permission of Dr. Atsushi Hatamochi, Professor of Dermatology, Dokkyo University School of Medicine, and the Japanese Scientific Societies Press.

Figure 80.1 Skin and soft tissue changes in Werner syndrome patients. A. Scleroderma-like skin changes, hyper-pigmentation and ulceration (arrow) of the lateral borderof the left foot in a male Japanese WS patient age 37. B. Localized calcification of the Achilles tendon (arrow) and plantar tendon insertion site calcification in a Japanese female WS patient age 54. Both photos were previously published (Hatamochi, 2001) and are used here with kind permission of Dr. Atsushi Hatamochi, Professor of Dermatology, Dokkyo University School of Medicine, and the Japanese Scientific Societies Press.

patients, although the associated laryngeal pathology has not been well studied.

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