The unique combination of dermatological and ocular phenotypes in Alström syndrome: severe presentation, early onset and two novel ALMS1 mutations

Funding sources: M.K., E.S.‐A., and R.K. are supported in part by grant no. 13‐873/3‐05 of the Ministry of Health, Republic of Macedonia. J.D.M. is supported by the National Institutes of Health HD036878. P.M. is supported in part by the Executive Agency for Health and Consumers, EURO‐WABB Project 2010 12 05. Conflicts of interest: none declared. Madam, Alström syndrome (ALMS) (MIM no. 203800) is a rare, complex, autosomal recessive genetic disorder affecting multiple organs and systems. Patients present with cone‐rod dystrophy leading to blindness, hearing impairment, severe insulin resistance, acanthosis nigricans, and type 2 diabetes, obesity, dilated cardiomyopathy in infancy, or adolescent/adult‐onset restrictive cardiomyopathy. Hormonal imbalances, hyperlipidaemia, short adult stature with scoliosis, liver steatosis and cirrhosis, pulmonary fibrosis and renal failure is progressive in adolescents and adults. Low testosterone levels are frequently observed in males, but hyperandrogenism (hirsutism) is often reported in female patients. Secondary sexual characteristics such as axillary and pubic hair are usually normal in both males and females. Variable complications can include hypothyroidism, delay of developmental milestones, seizures, gastrointestinal and urological dysfunction.1, 2