Mild clinical phenotype of Kindler syndrome associated with late diagnosis and skin cancer

Dermatology. 2010;221(4):309-12. doi: 10.1159/000320235. Epub 2010 Oct 11.

Abstract

Kindler syndrome (KS) is a heritable skin disorder with a complex phenotype consisting of congenital skin blistering, photosensitivity, progressive generalized poikiloderma and extensive skin atrophy. Here we describe 2 siblings with KS, who are, to the best of our knowledge, the oldest patients reported so far in the literature. The diagnosis was established in their seventh and eighth decades of life, and confirmed by mutation analysis. Both patients were homozygous for the recurrent FERMT1 mutation, c.328C→T, p.R110X. Because of a relatively mild course of the disease, mucosal membranes in the eyes and oesophagus being predominantly affected in recent years, they had been treated under other diagnoses, such as scleroderma. Cutaneous precancerous lesions and epithelial skin cancer arose in both siblings after the age of 50 years and were treated in an early stage. Taken together, we describe the natural course of KS, the morphological abnormalities occurring in the skin of older KS patients, we discuss the differential diagnosis and the association between KS and squamous cell carcinoma.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aminoquinolines / therapeutic use
  • Antineoplastic Agents / therapeutic use
  • Basement Membrane / pathology
  • Blister / diagnosis
  • Blister / genetics
  • Blister / pathology
  • Blister / surgery
  • Carcinoma, Basal Cell / diagnosis*
  • Carcinoma, Basal Cell / genetics
  • Carcinoma, Basal Cell / pathology
  • Carcinoma, Basal Cell / surgery
  • Cryosurgery
  • Delayed Diagnosis*
  • Epidermolysis Bullosa / diagnosis
  • Epidermolysis Bullosa / genetics
  • Epidermolysis Bullosa / pathology
  • Epidermolysis Bullosa / surgery
  • Female
  • Fluorouracil / therapeutic use
  • Homozygote
  • Humans
  • Imiquimod
  • Male
  • Membrane Proteins / genetics
  • Middle Aged
  • Mutation
  • Neoplasm Proteins / genetics
  • Neoplasm Recurrence, Local / genetics
  • Neoplasm Recurrence, Local / pathology
  • Neoplasms, Squamous Cell / diagnosis*
  • Neoplasms, Squamous Cell / genetics
  • Neoplasms, Squamous Cell / pathology
  • Neoplasms, Squamous Cell / surgery
  • Periodontal Diseases / diagnosis
  • Periodontal Diseases / genetics
  • Periodontal Diseases / pathology
  • Periodontal Diseases / surgery
  • Photosensitivity Disorders / diagnosis
  • Photosensitivity Disorders / genetics
  • Photosensitivity Disorders / pathology
  • Photosensitivity Disorders / surgery
  • Skin Neoplasms / diagnosis*
  • Skin Neoplasms / genetics
  • Skin Neoplasms / pathology
  • Skin Neoplasms / surgery

Substances

  • Aminoquinolines
  • Antineoplastic Agents
  • FERMT1 protein, human
  • Membrane Proteins
  • Neoplasm Proteins
  • Imiquimod
  • Fluorouracil

Supplementary concepts

  • Poikiloderma of Kindler