Mutations in two genes on chromosome 13 resulting in a complex hair and skin phenotype due to two rare genodermatoses: KLICK and autosomal recessive woolly hair/hypotrichosis simplex.

摘要

Madam, Congenital ichthyosis and hypotrichosis can occur as two manifestations of one genodermatosis. However, in socie-ties with a high prevalence of consanguineous marriages, autosomal recessive diseases are relatively frequent and the existence of two different autosomal recessive diseases must be also taken into consideration. Herein we describe a young man, with a complex hair and skin phenotype, which at first impression did not reveal one unifying diagnosis. The patient, individual II-1, a 20-year-old man of Arab-Muslim origin, son of consanguineous parents, was born with mild ichthyosis, without erythema, blistering or a collodion membrane. His scalp hair in early childhood was noted to be tightly curled but of normal thickness. Physical examination revealed multiple polycyclic, minimally erythematous and hypopigmented plaques with fine peripheral scaling, spread on his trunk (Fig.1a). Scalp hair was sparse, thin and light coloured (Fig. 1b). He also had dorsal and ventral keratoderma, erythematous, scaly and tight on the dorsal feet and with prominent accentuation of parallel skin lines on the dorsal hands and fingers. Nails were overcurved and pitted. The patient was otherwise healthy.