Phacomatosis pigmentokeratotica with nephroblastoma and juvenile hypertension.
Phacomatosis pigmentokeratotica is characterized by the coexistence of an organoid epidermal naevus, follow-ing 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.
Department of Dermatology, Necker Hospital, MAGEC Reference Centre, NSERM U-781, René Descartes Paris V University, Paris, France.
Simon
S
Jacobelli
Stéphanie
S
Leclerc-Mercier
Rémi
R
Salomon
Olivier
O
Hartmann
Frances
F
Brunelle
Rudolf
R
Happle
Christine
C
Bodemer
Smail
S
Hadj-Rabia
D000959:Antihypertensive Agents / Q000627:therapeutic use; D017024:Chemotherapy, Adjuvant; D005838:Genotype; D006801:Humans; D006978:Hypertension, Renovascular / Q000188:drug therapy / Q000209:etiology* / Q000235:genetics; D007223:Infant; D007680:Kidney Neoplasms / Q000209:etiology* / Q000235:genetics / Q000628:therapy; D008297:Male; D009392:Nephrectomy; D020752:Neurocutaneous Syndromes / Q000150:complications* / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D012077:Renal Artery / Q000002:abnormalities; D012867:Skin / Q000473:pathology*; D016896:Treatment Outcome; D009396:Wilms Tumor / Q000209:etiology* / Q000235:genetics / Q000628:therapy
D000959:Antihypertensive Agents