Kindler syndrome

Int J Dermatol. 2003 Sep;42(9):727-32. doi: 10.1046/j.1365-4362.2003.01659.x.


Kindler syndrome is a rare genodermatosis characterized by acral bullae and photosensitivity. The photosensitivity improves with advancing age and results in progressive poikiloderma and cutaneous atrophy, and many additional features have also been described. This report describes two male Kindler syndrome patients with classical features of acral blistering and photosensitivity in childhood, and subsequent development of poikiloderma, leukokeratosis of oro-ano-genital mucosae, phimosis and meatal stenosis. The first patient had additional ophthalmic features of chronic simple conjunctivitis caused by persistent irritation, multiple stromal nebular corneal opacities and thickened corneal nerves. The second patient showed skeletal changes, namely a dome-shaped skull (turri-cephaly), bifid fourth rib, missing fifth rib, short fourth and fifth metacarpals and mandibular abnormalities. This is the first report of such ophthalmic and skeletal features of Kindler syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Diagnosis, Differential
  • Gingival Diseases / complications
  • Humans
  • Hyperpigmentation / complications
  • Male
  • Pedigree
  • Phimosis / complications
  • Radiography
  • Ribs / abnormalities
  • Ribs / diagnostic imaging
  • Rothmund-Thomson Syndrome / complications
  • Rothmund-Thomson Syndrome / diagnosis*
  • Rothmund-Thomson Syndrome / diagnostic imaging
  • Rothmund-Thomson Syndrome / genetics*
  • Rothmund-Thomson Syndrome / pathology