A case of phacomatosis pigmentokeratotica in Japanese monozygotic twins.

© 2011 The Authors. doi: 10.2340/00015555-1133 Journal Compilation © 2011 Acta Dermato-Venereologica. ISSN 0001-5555 Epidermal naevus syndromes include different diseases that share a common feature of mosaicism (1, 2). The association of a speckled lentiginous naevus, an organoid naevus with sebaceous differentiation, with skeletal and neurological anomalies, constitutes a specific syndrome called phacomatosis pigmentokeratotica (PPK). It has been hypothesized that the co-occurrence of two different naevi reflects a so-called twin spot phenomenon (3). We report here an unusual example of PPK in a pair of Japanese monozygotic twins, associated with multiple pinhead-sized vascular lesions, aortic stenosis, arteriovenous fistulation and hypertrophy of the ipsilateral leg.