Clinical Snippets

Abstract

Biweekly treatment with human recombinant alpha-galactosidase A cleared globotriosylceramide from affected internal organs, skin, skin capillaries, and other skin cells in patients with Fabry disease, as reported by Thurberg and colleagues. Since skin lesions often occur before internal organ involvement, the biopsy may be a cost-effective and minimally invasive technique to monitor therapy and to prevent systemic disease. J Invest Dermatol 122:900–908, 2004. Augusto and coworkers report that daily topical tazarotene cleared 47% of basal cell carcinomas, with no recurrences after 2 years. Apoptosis increased, epidermal proliferation decreased and necrosis was seen in treated lesions. By activating apoptosis and decreasing proliferation, tazarotene may have a one-two punch fatal to basal cell carcinoma. J Invest Dermatol 122:1037–1041, 2004. Dohi disease, named after the modern father of Japanese dermatology who described it, has symmetrical acral reticulate pigmentation, and was often considered to be limited to Japan. Qing and coworkers describe two Chinese families with Dohi disease and novel adenosine deaminase mutations. Some of those difficult-to-diagnose pigmentary diseases seen elsewhere in the world may represent Dohi disease. J Invest Dermatol 122: 896–899, 2004. A pair of dichorionic monozygous twins have different hair whorl patterns. Cockayne summarized some of the genetic studies on whorls (Inherited Abnormalities of the Skin, Oxford, 1933). Studying the scalp patterns of a large number of twins should be intriguing, and may help determine the relative roles of nature and nurture on whorls; it may also yield important clues to the early developmental events that determine skin structure and patterning. J Invest Dermatol 122:1057–1058, 2004.