Exacerbation, then clearance, of mutation-proven Darier's disease of the skin after radiotherapy for bronchial carcinoma: a case of radiation-induced epidermal differentiation?

Radiat Res. 2001 Dec;156(6):724-30. doi: 10.1667/0033-7587(2001)156[0724:etcomp]2.0.co;2.

Abstract

We investigated a radiotherapy-induced flare and subsequent clearance of skin lesions of a patient with the rare, dominantly inherited genodermatosis, Darier's disease (DD). The DD gene, ATP2A2, was recently isolated and shown to be a cation pump responsible for regulating intracellular calcium homeostasis. A severe exacerbation of Darier's skin lesions developed within the radiation field when 40 Gy of palliative thoracic external-beam radiation therapy and concurrent chemotherapy (cisplatin and hydroxyurea) were delivered for non-small cell lung cancer. The DD lesions subsequently completely cleared from irradiated skin, as they did when a subsequent course of radiation alone was given for a loco-regional tumor recurrence. The two radiation therapy-treated areas of skin remained free from lesions of the skin disorder until the patient's death from progressive lung cancer 9 months later. The nucleotide sequence of the patient's ATP2A2 gene was determined by PCR-based cycle sequencing. We identified four nucleotide sequence variants in the ATP2A2 gene in this patient. Three were probable polymorphisms and the other appeared to be a novel disease-causing mutation (R751Q), situated in the transmembrane portion of the ATP2A2 protein. This finding confirmed the clinical diagnosis. Since epidermis turns over every 3-4 weeks, total and persistent clearance of the DD lesions by chemoradiotherapy suggests that this treatment induced sustained differentiation of the DD-affected skin by an unknown mechanism. Oncologists treating malignant disease in patients with DD should anticipate temporary deterioration in DD-involved irradiated skin. Radiation therapy has therapeutic potential in severe DD.

Publication types

  • Case Reports

MeSH terms

  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Base Sequence
  • Calcium-Transporting ATPases / genetics
  • Carcinoma, Non-Small-Cell Lung / drug therapy
  • Carcinoma, Non-Small-Cell Lung / radiotherapy*
  • Cell Differentiation / radiation effects
  • Cisplatin / administration & dosage
  • Combined Modality Therapy
  • DNA Primers
  • Darier Disease / etiology*
  • Darier Disease / genetics
  • Darier Disease / pathology
  • Epidermal Cells
  • Epidermis / radiation effects*
  • Humans
  • Hydroxyurea / administration & dosage
  • Lung Neoplasms / drug therapy
  • Lung Neoplasms / radiotherapy*
  • Male
  • Middle Aged
  • Mutation*
  • Polymerase Chain Reaction
  • Radiotherapy / adverse effects
  • Sarcoplasmic Reticulum Calcium-Transporting ATPases

Substances

  • DNA Primers
  • Sarcoplasmic Reticulum Calcium-Transporting ATPases
  • ATP2A2 protein, human
  • Calcium-Transporting ATPases
  • Cisplatin
  • Hydroxyurea