Werner syndrome in an Iranian family.

A 49-year-old man was first seen in our department for the evaluation of scleroderma-like skin changes and a nonhealing ulcer on his leg from years before referral. His medical history was of long duration. His growth was stunted at the age of 12. At 21 years of age, the patient noted graying of the scalp hair, most prominent on his temples, and the process was progressively completed by the age of 23. At the same age, atrophy and thinning of the skin and loss of subcutaneous fat resulted in a tense, shining, and adherent appearance of his skin, most obvious on his face and extremities. Soon after, he developed a high-pitched, hoarse voice. He had undergone bilateral cataract surgery at the age of 30. Around the age of 46, he developed a unilateral nonhealing chronic leg ulcer (Figure 1). He had separated from his wife because of infertility. He was the first offspring of his second-degree healthy relative parents. The other 3 siblings had similar signs and symptoms. Our patient gave the history of premature graying of the hair of his younger brother at the age of 18 and his 2 younger sisters at the age of 12 and 16. His brother had recently received diagnoses of bilateral cataract and diabetes mellitus. All of the siblings had ceased growth from early adolescence. On physical examination, our patient's weight was 48 kg and his height was 150 cm. He had normal intelligence. He was speaking with a high-pitched and childish voice. He had a bird-like appearance with a beak-shaped nose. Mottled and diffuse pigmentation and poikiloderma appearance was conspicuous on his neck (Figure 2). The entire skin was smooth, shiny, and scleroderma-like, and a marked decrease in the subcutaneous fat was noted over the extremities. A deep cutaneous ulcer was evident on his slimmed leg. Digital ulcers were not found, and radial and dorsalis pedis pulses were palpable. Clinodactyly of the toes were conspicuous. His nails were dystrophic and he had used dentures from the age of 20. On examination of the external genitalia, his testes were smaller than normal. In the biopsy taken from the leg ulcer, there were no signs of malignancy. There were no signs ofosteomyelitis on x-ray. Biopsy of the normal skin revealed atrophic epidermis and thick dermis with hyalinization of the collagen fibers and absence of pilosebaceous structures (Figure 3). The patient's scalp hair was thin and sparse and there were few axillary and pubic hairs. His fasting plasma glucose level was normal.

Werner's syndrome: twenty-four cases with a review of the Japanese medical literature.

Twenty-four cases of Werner's syndrome were studied to define the clinical manifestations in comparison with those found in a clinical review of 153 cases in the Japanese medical literature. The conspicuous characteristics of the 24 patients were short stature, stocky trunk with thin limbs, low body weight, bird-like or "masked" face, early graying or loss of hair, high-pitched or hoarse voice, bilateral cataracts, and various scleroderma-like signs. Three signs not stressed previously were hyperreflexia, flat feet, and irregular dental development. The onsets and incidences of these manifestations during the seven-year serial study are described.

Clinical and metabolic studies on Werner's syndrome: with special reference to disorders of lipid and liver function.

In a clinical study of patients with Werner's syndrome, it became apparent that careful observation of numbers of patients could result in the addition of new or modified signs and symptoms to those already known. In addition of flat feet and hyperreflexibility, it was observed that the irregular disarrangement of the teeth and thin, sparse and colour-faded hair were frequently occurrences in patients with Werner's syndrome. In the laboratory survey, disorders of lipid metabolism and liver function were detected in 3 out of 24 cases of Werner's syndrome. It was concluded that the disturbances of lipid metabolism result in part from moderate liver dysfunction.

Chondrosarcoma of the mandibular condyle in a patient with Werner syndrome: a case report.

Werner syndrome, also called progeria of the adult and pangeria is a rare autosomal recessive disorder that affects connective tissue throughout the body. It is associated with premature ageing and an increased risk of cancer and other diseases. The mean survival for patients with Werner syndrome is 47 years. Death usually occurs when patients are aged 30-65 years because of atherosclerosis or malignant tumours. The purpose of this paper is to present a patient with Werner syndrome exhibiting a chondrosarcoma of the left temporomandibular joint and ramus. To the best of our knowledge this is the first case, of a Werner syndrome patient with an associated head and neck chondrosarcoma being reported. The diagnostic procedure followed and management of the patient are outlined in the paper as well.