BAZEX SYNDROME (BAZEX–DUPRÉ–CHRISTOL SYNDROME)
This trait (not to be confused with the nongenetic paraneoplastic acrokeratosis also described by Bazex, in which psoriasiform changes develop on the hands, feet, and face, with abnormalities of the nails associated with internal malignancy) is characterized by follicular atrophoderma, especially on the face, hands, feet, and elbows, with the appearance of “ice pick” marks (especially on the dorsum of the hands) (Fig. 1) but without palmar or plantar pits and multiple milia (Fig. 2) (Kidd et al. 1996; Vabres et al. 1995). That the disorder is fundamentally one affecting the hair follicle is illustrated by the presence of hypotrichosis in affected individuals which is obvious from infancy. As in the basal cell nevus syndrome, affected children may develop benign proliferations of the hair follicle such as trichoepitheliomas (Yung and Newton-Bishop 2005a, b) in early in life. Multiple basal cell carcinomas may develop on the face from the second decade, but there is variable expressivity which is likely to be related to the degree of sun protection given in childhood. Occasional children develop pigmented proliferative lesions described as BCC (Abuzahra et al. 2011; Parren et al. 2011), but the author’s experience is that these are difficult to distinguish from “benign” proliferations described by some as trichoepitheliomas. Bazex–Dupré–Christol syndrome is inherited as an X- linked dominant trait, both males and females being affected, and is linked to DXS1192 at Xq14–q27.1 (Abuzahra et al. 2011; Parren et al. 2011).
Fig. 1 Follicular atrophoderma (ice pick marks) in Bazex–Dupré–Christol syndrome
Fig. 2 Milia on the dorsa of the hands in a baby with Bazex–Dupré–Christol syndrome