RARE CASE REPORT: WERNER’S SYNDROME - PREMATURE AGING SYNDROME SEEN IN TWO SISTERS
Journal Title: Journal of Evolution of Medical and Dental Sciences - Year 2013, Vol 2, Issue 45
Abstract
Werner’s syndrome is a premature aging syndrome with autosomal recessive mode of inheritance. It is a rare case, hence early identification of disease and genetic counseling is important. AIM: To describe the clinical features of Werner‘s Disease in two siblings. [b]CLINICAL [/b] [b]PRESENTATION[/b]: A 34 year old female came with recurrent ulcers on lower limb, she was operated for bilateral cataract, hypopigmentation in B/L extensor surface of arm and waist, absence of axillary and pubic hair, loss of subcutaneous fat and the patient appeared old. Her younger sister, 33year old female came with similar complaints but less severe and had diabetes mellitus. H/O consanguineous marriage in parents. [b]RESULT[/b]: Skin biopsy: Epidermis was thinned out, appendages are sparse and dermis showed thick hyalinised collagen. [b]CONCLUSION[/b]: With Clinical features of premature aging, h/o consanguineous marriage, positive family history a diagnosis of Werner’s disease was made.
Authors and Affiliations
Gopal M. G, Kavya Nayak, Sharath Kumar, Ramesh M, Nandini A. S
Keywords
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