KLICK syndrome: recognizable phenotype and hot‐spot POMP mutation

KLICK syndrome constitutes a clinically recognizable ichthyotic condition due to a 1-bp deletion in the POMP gene. The linear keratotic lesions constitute the most specific clinical features but arise lately. Diffuse palmoplantar keratoderma with sclerosing deformity of the fingers may represent the earliest skin abnormality clinically suggestive of the diagnosis. The initial absence of the specific skin anomalies makes difficult an early diagnosis. As molecular confirmation of KLICK syndrome is easy, search for the 1-bp deletion in POMP should be performed in young children presenting with undiagnosed sclerosing keratoderma and ichthyosiform erythroderma.