Werner's syndrome

A 33-year-old female has developed Werner's syndrome. The prognosis of the condition is unfavourable because of early symptoms of diabetes and atherosclerosis.     

Werner's syndrome and astrocytoma

Werner's syndrome, a relatively rare and autosomal recessive disorder, is well known to be characterized by a high frequency of malignant neoplasms. Werner's syndrome has not infrequently been associated with meningiomas. We report a case of Werner's syndrome and temporal astrocytoma in a 49-year-old male. As far as we are aware, this is the first report of the association of Werner's syndrome and astrocytoma.     

Werner's syndrome and malignancy.

Ten per cent of all patients with Werner's syndrome develop some form of malignant disease, half of them sarcomas. A case of Werner's syndrome is reported in which the patient had a malignant fibroxanthoma of the thigh followed by a papillary cystadenocarcinoma of the ovaries. A brother with clinical signs of Werner's syndrome died of acute leukaemia.     

Musculoskeletal complications of Werner's syndrome

INTRODUCTION: Werner's syndrome, a rare autosomal recessive genetic disease, is a premature aging disease characterized by early onset of symptoms related to normal aging including short stature, cataracts, graying of the hair, skin ulcerations, diabetes, osteoporosis, atherosclerosis and predisposition to cancer. Musculoskeletal complications can also develop with major impairment of quality of life for these patients. OBSERVATION: We report two typical cases in two males aged 47 and 44 diagnosed on the basis of cutaneous progeroid signs. Diagnosis was confirmed by identification of homozygotous mutations in the WRN gene. The first patient later developed chronic osteomyelitis of the right forearm, which is a rare complication of Werner's syndrome. The second patient presented calcaneum valgus resulting in mechanical overwork and bilateral posterior tibial tendinitis. He also developed osteitis of the 5th toe. CONCLUSION: Dermatologists should be aware of the potential orthopedic complications of this disease in order to diagnose them as quickly as possible and organize multidisciplinary management alongside other specialists such as rheumatologists and orthopedic surgeons.     

Werner's syndrome. Biochemical and cytogenetic studies

Werner's syndrome is a rare condition of autosomal-recessive inheritance, showing some features of accelerated aging. We describe the clinical findings and laboratory studies in a 29-year-old man with this disorder, who presented because of a leg ulcer. Skin fibroblasts from our patient were difficult to culture and proliferated more slowly than those of controls. They produced less glycosaminoglycans than those of controls but synthesized more collagen, which was normal in type. The patient's urinary glycosaminoglycan level was slightly elevated, with hyaluronic acid as a major component. His peripheral blood lymphocytes showed no chromosomal instability and responded normally to mutagens.     

Werner's syndrome (adult onset progeria)

Werner's syndrome (adult onset progeria) is a rare form of autosomal recessive genodermatosis associated in almost 80% of cases with mutation of the WRN gene. This prototype of rapid ageing syndromes is characterized by short stature with skin and hair anomalies (early graying of the hair, alopecia, depilation, sclerosed skin), orthopedic complications (flat foot, hallux valgus and other joint deformations) as well as systemic signs (early cataract, premature and diffuse atherosclerosis, endocrinopathies) and high risk of certain types of cancer (sarcomas, myeloid blood dyscrasias). Death occurs around the age of 40 - 50 years mainly as a result of cardiovascular accident or development of a malignant tumour. Signs of early aging should evoke this basic diagnosis and arrangements should be made for appropriate follow-up with screening for and treatment of systemic complications.     

Werner's syndrome and the cellular immune reactions.

A case of Werner's syndrome in a 39-year-old man is described. PPD and trichophytin intradermally proved negative; the percentage of T-lymphocytes and the lymphocyte response to PHA were reduced. Cellular immune reactions seem to have been impaired in this case.     

Genetic analyses of two cases of Werner's syndrome

We report two cases of Werner's syndrome (WS). First, a 42-year-old Japanese man was referred on suspicion of systemic sclerosis (SSc) because of scleroderma-like skin atrophy and foot ulcers. Second, a 51-year-old woman with malignant fibrous histiocytoma was referred on suspicion of premature aging syndrome. Because both patients had many typical manifestations compatible with WS, we made a clinical diagnosis of WS. Genetic analyses revealed a homozygous mutation, an A deletion at nucleotide 3677 of WS gene (WRN) in the first case and a homozygous mutation, a G to C substitution at one base upstream of exon 26 of WRN in the second case. Both mutations were consistent with those previously reported in Japanese WS patients.     

A case of Werner's syndrome associated with osteosarcoma.

We described a case of Werner's syndrome associated with osteosarcoma. A 37-year-old Japanese man was diagnosed as having Werner's syndrome by the presence of juvenile cataracts, skin sclerosis and hyperpigmentation of the feet, high-pitched voice, characteristic bird-like appearance of the face with beak-shaped nose, thinning of the entire skin and hyperkeratoses on soles, hyperlipemia, hyperuricemia, diabetes melitus, and the mutated responsible gene (WRN). He had a 3-month history of a tumor on his left forearm. Histologically, the tumor included four histological patterns; a malignant fibrous histiocytoma-like, a desmoid-like, a dermatofibrosarcoma protuberans-like, and a chondrosarcoma-like pattern. Tumoral osteoid formation was also found in the tumor. Therefore, the tumor was diagnosed as osteosarcoma.     

Werner's syndrome: seven cases in one family.

7 cases of Werner's syndrome in one family of northern Sardinia (the female : male ratio being 4:3) are reported. A 9-year-old girl affected with Cooley's anemia is reported too. The typical complete pattern of the syndrome was observed in patients in the fourth decade of their lives, whereas in the two youngest ones, some features were missing. 1 patient died of gastric carcinoma, 1 of cachexia. Consanguinity was established in two generations. The genealogical tree suggests an autosomal recessive mode of inheritance. Genealogical, clinical, biochemical, and histopathological studies were performed. As far as we know, this is the largest number of patients with Werner's syndrome reported in one family.