Phacomatosis pigmentokeratotica with nephroblastoma and juvenile hypertension

Acta Derm Venereol. 2010 May;90(3):279-82. doi: 10.2340/00015555-0824.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Antihypertensive Agents / therapeutic use
  • Chemotherapy, Adjuvant
  • Genotype
  • Humans
  • Hypertension, Renovascular / drug therapy
  • Hypertension, Renovascular / etiology*
  • Hypertension, Renovascular / genetics
  • Infant
  • Kidney Neoplasms / etiology*
  • Kidney Neoplasms / genetics
  • Kidney Neoplasms / therapy
  • Male
  • Nephrectomy
  • Neurocutaneous Syndromes / complications*
  • Neurocutaneous Syndromes / genetics
  • Neurocutaneous Syndromes / pathology
  • Phenotype
  • Renal Artery / abnormalities
  • Skin / pathology*
  • Treatment Outcome
  • Wilms Tumor / etiology*
  • Wilms Tumor / genetics
  • Wilms Tumor / therapy

Substances

  • Antihypertensive Agents