Annales de dermatologie et de venereologie · 2007
[Musculoskeletal complications of Werner's syndrome].
Клинический случайАннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
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Kluger N, Aractingi S, Aboukrat P, Vanderlinden I, Guillot B, Bessis D
Аннотация
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.
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.