Correspondence

Abstract

A 59‐year‐old woman was first seen in our department for the evaluation of scleroderma‐like skin changes and trophic ulcers on her legs.Her past medical history was of a long duration. At 18 years of age, the patient noted graying of the scalp hair, skin thinning, and slight hyperpigmentation. Soon after, she developed a high‐pitched, raspy voice. Her growth ceased at about 14 years of age. At the age of 35 years, visual disturbances developed, and she was diagnosed as having bilateral cataracts. Cataract surgery was performed at the age of 40 years. During this time, marked muscular atrophy and joint contractures limited her walking. Around the age of 50 years, she developed leg ulcers unresponsive to treatment. In the ensuing period of approximately 7 years, the cutaneous ulcers worsened, resulting in osteomyelitis.Both her parents were normal and nonconsanguineous. The patient's 50‐year‐old sister and 34‐year‐old daughter have no medical problems.On physical examination, the patient's height was 148.5 cm and weight 47 kg. Her voice was high‐pitched and childish. The entire skin surface, sparing the palms and soles, had a poikilodermic appearance (Fig. 1). Although the skin was not sclerotic, facial involvement produced thinning and sharpening of the nose giving it a beaked appearance (Fig. 2).Premature aged appearance with atrophic, pigmented, and telangiectatic lesionsimageProfile of face to show bird‐like featuresimageSmooth, shiny, scleroderma‐like skin and a marked decrease in the subcutaneous tissue and muscles were noted over the extremities. Her limbs were slim and her hands and feet were small. There were callosity formations on the soles, associated with deep cutaneous ulcers on the right heel and bilaterally around the malleoli. Digital ulcers were not found. The radial and dorsalis pedis arteries were palpable. The scalp hair was thin and sparse. There were only a few axillary and pubic hairs. The nails were dystrophic and the teeth displayed melanodontia, irregular incisors, and periodontosis.Laboratory examination revealed an erythrocyte sedimentation rate (ESR) of 66 mm/h. The other test results, including SMA‐12 (Simultaneous Multichannel Analysis), liver function test, urinalysis, blood glucose, and insulin in the glucose tolerance test, were in the normal range. The serum levels of thyroid hormones and TSH (thyroid‐stimulating hormone) were within reference limits. Radiologic examination of the right foot revealed osteoporosis and soft‐tissue calcifications (Fig. 3). Chest X‐ray and echocardiogram did not show any cardiopulmonary involvement. Angiography of the right lower limb did not show any anomaly, and there was no finding suggestive of calcification of the vessel walls. There was no involvement of the visceral organs or hypoplastic genitalia.Soft‐tissue calcifications and osteoporosis seen in the right footimageHistologic examination from a scleroderma‐like lesion on the leg showed an atrophic epidermis with moderate hyperkeratosis and a lack of rete ridges. The dermal collagen was thick with mild hyalinization; the pilosebaceous units and sweat glands were absent. There was a replacement of the subcutaneous fat by connective tissue (Fig. 4).Epidermal atrophy with moderate hyperkeratosis; the dermis is thick with hyalinization of the collagen fibers; there is an absence of pilosebaceous structures (hematoxylin and eosin, ×40)image