Werner syndrome: clinical evaluation of two cases and a novel mutation.

[werner syndrome]

Werner syndrome (WS ) is a premature aging disorder , inherited in an autosomal recessive pattern and caused by the mutation in the WRN gene . In this report we describe two male patients with negative family history who demonstrate characteristic findings of WS , with different mutations , including one novel mutation . The first case was a 47 -year -old man who had been suffering from large , ischemic ulcers on both legs for 7 years . Physical examination revealed a thin and short man with severe wasting of all extremities . He had a high-pitched voice , hoarseness , a characteristic bird-like facies , bilateral cataracts , generalized osteoporosis , hypotrichosis , atrophic and poikilodermic skin , flexion contractures of hands , feet and knees , and soft tissue calcifications . Laboratory investigations revealed anemia , high erythrocyte sedimentation rate , low creatinine clearance , and high liver enzymes . Genetic analysis showed a homozygous novel 1 bp-deletion in exon 19 of WRN , 2426 /27 delG , causing frameshift and protein truncation R 809 SfsX 2 , which has not been described before . The second case was a 23 -year -old man who was referred for large callosities on both feet , present for 7 years . He complained of weakness , weight loss , wasting of muscles , and early graying of hair . The entire skin was thin , wrinkled and dry . Generalized hypotrichosis , scattered ephelid-like macules , sclerotic fingers , calcinosis cutis on ears , hyperpigmentation on elbows were the other alterations of skin . Skeletal survey revealed osteoporosis . Genetic analysis showed a homozygous known pathogenic splice site mutation c .3460 -2 A >G , causing skipping of Exon 30 in WRN .

Diseases
Validation

Diseases presenting "skeletal survey" symptom

child syndrome

dentinogenesis imperfecta

monosomy 21

proteus syndrome

werner syndrome

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