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Kindler syndrome.

Ramesh Chander Sharma1, Vikram Mahajan, Nand Lal Sharma

  • 1Department of Dermatology, I. G. Medical College, Shimla 171001 (H.P.), India.

International Journal of Dermatology
|September 6, 2003
PubMed
Summary
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Kindler syndrome, a rare skin disorder, presents with blistering and sun sensitivity. This study details two male patients with unique eye and skeletal abnormalities, expanding the known features of this genodermatosis.

Area of Science:

  • Dermatology
  • Genetics
  • Ophthalmology
  • Orthopedics

Background:

  • Kindler syndrome is a rare genodermatosis known for acral blistering and photosensitivity.
  • Symptoms often include progressive poikiloderma and cutaneous atrophy with age.

Observation:

  • Two male Kindler syndrome patients exhibited classical childhood symptoms of blistering and photosensitivity.
  • They later developed poikiloderma, mucosal leukokeratosis, phimosis, and meatal stenosis.

Findings:

  • The first patient presented with ophthalmic issues: chronic conjunctivitis, corneal opacities, and thickened corneal nerves.
  • The second patient displayed skeletal abnormalities, including turri-cephaly, rib anomalies, short metacarpals, and mandibular issues.

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Implications:

  • This report is the first to document specific ophthalmic and skeletal features in Kindler syndrome.
  • These findings broaden the clinical spectrum and diagnostic considerations for Kindler syndrome.
  • Further research is needed to understand the genetic basis and full phenotypic variability of Kindler syndrome.