BG02 A case of Werner syndrome: undiagnosed progeroid syndrome presenting as female pattern hair loss

Abstract A 27-year-old woman of Pakistani heritage with a background type 2 diabetes, hypertension, hypothyroidism, infertility and Achilles tendinopathy was referred to the dermatology department for diffuse hair loss. She had greying scalp from age 20 years and, on examination, there were signs fragility thinning. Biopsies showed female pattern Topical minoxidil 5% twice daily advised. At consultation, it noted that her facial features included thin nose micrognathia. dental implants undergone cataract surgery at 19 age. Scleroderma-like changes face over distal joints, alongside axillary freckling excessive lentigines skin type. short stature low weight, body mass index (BMI) 15.4 kg m–2. There thenar hypothenar wasting loss gluteal fat. Her parents consanguineous (first cousins). One brothers, who similar features, died aged 30 osteosarcoma. The patient partner two unsuccessful cycles in vitro fertilization following 5 failure conceive naturally. Medication consisted atorvastatin, Calcichew, levothyroxine, lisinopril, metformin, pioglitazone repaglinide. Routine bloods hormone profile normal. Despite age, BMI statin treatment, blood lipids raised liver ultrasound fatty changes. queried Werner syndrome referral tertiary lipodystrophy clinic made. genetic panel completed. Homozygous null mutation WRN locus found confirming diagnosis syndrome. is an extremely rare autosomal recessive form progeroid first described by Otto 1904. hallmark sign striking disproportion between patient’s appearance. encodes eponymous protein, member RecQ-like DNA helicase family. prognosis unfavourable, mean survival 54 years. Primary causes mortality are cardiovascular disease malignancy, melanoma, thyroid cancer, osteosarcoma soft tissue sarcoma being most common forms. currently no specific treatment. Management close multidisciplinary monitoring treatment associated conditions. 2010 study mouse model vitamin C supplementation be beneficial (Massip L, Garand C, Paquet ER et al. Vitamin restores healthy aging FASEB J 2010; 24:158–72). As condition results excess damage ultraviolet exposure high risk as well nonmelanoma cancers, annual check required.