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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Phacomatosis pigmentokeratotica (Happle) in a 23-year-old man.

Phacomatosis pigmentokeratotica is a rare but highly characteristic disease defined by the occurrence of an organoid naevus with sebaceous differentiation, a speckled-lentiginous naevus and other associated anomalies. It is probably caused by the twin-spot phenomenon. We report on a 23-year-old male electrician with 10 irregularly shaped, sharply demarcated, brownish-yellow papillomatous plaques following Blaschko's lines, as well as 6 large, sharply demarcated, round to oval, slightly greyish macules with pewit-egg-like dots, involving both buttocks, the right thigh, the right knee, the right pectoral region and the upper back. A moderate hyperhidrosis of the palms, soles and axillae was noted. All routine blood tests and laboratory findings, including chest X-ray, ECG, abdominal ultrasound, ocular and neural examination were unrevealing. Phacomatosis pigmentokeratotica may be associated with dysaesthesia, segmental hyperhidrosis, mild mental retardation, epileptic seizures, deafness, ptosis, strabismus or muscular weakness. In our patient, only slight hyperhidrosis was present, whereas all other associated anomalies could be excluded.[1]


  1. Phacomatosis pigmentokeratotica (Happle) in a 23-year-old man. Wollenberg, A., Butnaru, C., Oppel, T. Acta Derm. Venereol. (2002) [Pubmed]
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