RARE CASE REPORT: WERNER’S SYNDROME - PREMATURE AGING SYNDROME SEEN IN TWO SISTERS

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.CLINICAL PRESENTATION: 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.RESULT: Skin biopsy: Epidermis was thinned out, appendages are sparse and dermis showed thick hyalinised collagen.CONCLUSION: With Clinical features of premature aging, h/o consanguineous marriage, positive family history a diagnosis of Werner's disease was made. INTRODUCTION:Werner's syndrome is a progeroid syndrome.It is an autosomal recessive disorder characterized by an accelerated aging process after puberty.It is considered as an genomic instability syndrome.Mutation are present in DNA helicase gene.Cutaneous changes like atrophy, loss of subcutaneous fat, wrinkling, canities, loss of hair, defective pigmentation, sclerosis and ulceration.Diabetes Mellitus, posterior subcapsular cataract, atheroma and malignancies develop at an early age. 2 This article describes the clinical features of Werner's syndrome in two siblings. CASE REPORT:A 34 year old married nulliparous female came with recurrent ulcers on lower limb, the recurrent ulcers were seen on bony prominences like medial malleolus, she was operated for cataract of both the eyes 10 years back, depigmentation was present on in B/L elbows and extensor surface of arm, around the waist area, she had sparse grey hair on the scalp, absence of axillary and pubic hair, the face appeared aged, with beaked nose, loss of subcutaneous fat and the patient appeared old.Patient had poliosis of eyelashes her legs and hands were very slender and spindle shaped with loss of subcutaneous fat, the skin was taut stretched tightly over the bone with sclerodermatous skin changes.Obstetric History: Gravida -0, Para-0, Living -0.Menstrual history: attained menopause 2 years back, early attainment of menopause.Short stature 140 cm, patients weight was 25kgs .Her younger sister, 33year old female came with similar complaints, sparse hair, mottled pigmentation, dry atrophic skin, loss of subcutaneous fat, prematurely aged appearance, bird like facies, cataract of both eyes for which she was operated, H/O diabetes mellitus since 10 years on treatment, all her complaints were less severe compared to her elder sister.H/O consanguineous marriage in parents.Out of the five siblings, 1 male and 4 female, two of them were affected, rests of the siblings were normal.Complete haemogram: both the sisters were anaemic, ANA was normal in both, X-ray of the limbs was normal in both.Skin Biopsy From younger affected

Topic: DNA Repair Mechanisms
Subfield: Molecular Biology
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences