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Clinical Report

Phacomatosis Pigmentokeratotica with Nephroblastoma and Juvenile Hypertension

doi: 10.2340/00015555-0824


Phacomatosis pigmentokeratotica is characterized by the coexistence of an organoid epidermal naevus, follow­ing Blaschko’s lines, and a large speckled lentiginous naevus, typically arranged in a chequerboard pattern. This entity has been isolated from the group of epidermal naevus syndromes and is frequently associated with extracutaneous anomalies. We report here the first observation of phacomatosis pigmentokeratotica associated with nephroblastoma. In addition to this paediatric renal tumour, the coexistence of juvenile arterial hypertension suggests an associated vascular defect. The link between the extracutaneous manifestations and cutaneous twin spot phenotype is discussed.


Simon Jacobelli, Stéphanie Leclerc-Mercier, Rémi Salomon, Olivier Hartmann, Frances Brunelle, Rudolf Happle, Christine Bodemer, Smail Hadj-Rabia


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    Volume 90, Issue 3

    DOI: 10.2340/00015555-0824

    Pages: 279-282

    View at PubMed