Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)

Erythrokeratodermia (EK) is a rare skin disorder, likely genetic and usually present from infancy.(1) There is patchy symmetrical involvement over the body surface, manifested in progressive figurate plaques of hyperkeratosis and more transient areas of erythema. There is significant overlap in the clinical and genetic features of the "variabilis" and "progressiva" forms of EK. Restricted cutaneous syndromes of EK have been described associated with mutations in the connexin (GJB3, GJB4, and GJA1) and loricrin (LOR) genes. The majority of patients with EK, however, have no pathogenic mutations in the GJB genes or LOR. Three different mutations in the ELOVL4 gene have so far been described in patients presenting with a combination of EK and spinocerebellar ataxia (SCA34).(2-4) We describe here a novel variant in ELOVL4 associated with this syndrome. This case draws attention to the importance of assessing subtle chronic neurologic dysfunction in patients presenting with EK and, conversely, being aware of the occurrence of characteristic cutaneous lesions in this newly described syndrome of spinocerebellar ataxia.