P-37   NAXOS DISEASE: CASE REPORT

N. Juma’a, I. Bukhari*. Armed Forces Hospital of King Abdulariz Airbase, Dhahran, Saudi Arabia. *King Faisal University, college of Medicine and Medical Sciences, Dermatology Department, Alkhobar, Saudi Arabia.

Case report: Naxos disease is an autosomal recessive genodermatosis characterized by diffuse nonepidermolytic palmoplantar keratoderma with clear borders, wooly hair and cardiomyopathy. Here we report a 2-year-old Saudi girl originally from the South, a product of full-term normal vaginal delivery with a history of congenital hip dislocation which was treated earlier. Her parents noticed the appearance of thick, yellow, scaly lesions in the palms and soles which started at the age of 1.5 year. In addition, she had dry, fine light colored non-growing scalp hair since she was born. The parents gave history of delayed milestones. There was no history of teeth abnormalities or convulsions or any signs of mental retardation. Family history was positive for similar condition from the maternal side (aunt) and the parents were first degree relatives. On examination: scalp hair was sparse, fine, pale, light colored and brittle having the appearance of wolly hair and the eyebrows were thinned. Palms and soles showed diffuse hyperkeratotic yellowish lesions with scaling and fissuring which had a well demarcated borders of erythema not extending to the dorsal surface. Nails were thin, brittle, ridged and dystrophic. General systemic evaluation of the patient was within normal. Echocardiogram did not reveal any abnormality. So on the basis of the history and clinical findings a diagnosis of Naxos disease was established and the patient was treated with Locasalen ointment twice a day for the palmoplantar lesions. Regular and close follow up was our future plan to tackle any new symptoms or sign. Discussion: Naxos disease is a rare autosomal recessive genodermatosis that was first reported in the families descending from the Hellenic island of Naxos. Since 1985, 25 cases were reported and followed up closely. The condition is characterized by wolly hair, diffuse palmoplanter keratoderma with clear borders and sometimes erythematous appearing within the first year of life. Cardiac abnormalities will not appear until late puberty which include ventricular arrhythmias, heart failure, dilated cardiomyopathy or even sudden death. In contrast, in 1983, crosti et al reported a family from Italy with plamoplantar keratoderma and wolly hair without cardiac abnormalities. So our patient together with her aunt are the first reported cases of Naxos disease in Saudi arabia.