Kindler syndrome in two related Kurdish families

Am J Med Genet. 1985 Jan;20(1):43-8. doi: 10.1002/ajmg.1320200107.

Abstract

We describe a 19-year-old girl with Kindler syndrome. She has suffered from bullae on pressure areas of the skin since birth. These healed with atrophic scars and caused marked atrophy of the skin of the palms and soles and wrinkled and parchment-like skin of the dorsum of the hands and feet. Since infancy the patient has also suffered from severe photosensitivity on exposed areas and developed poikiloderma on the skin of her face, neck, chest, and upper back. Since age 17 years the patient has been free of bullae but moderate photosensitivity exists. Oral examination showed limitation of mouth opening, ankyloglossia, overjet malocclusions, and atrophy of buccal mucosa with widespread white macules. Results of laboratory tests were within normal limits. The proposita's parents (family 1) are Jews of Kurdish origin and first cousins. She is the only one affected among five siblings. Family 1 is related to a second family (family 2) through a common great-grandfather. The parents of family 2 are first cousins and they have three affected children. An autosomal recessive mode of inheritance of Kindler syndrome is suggested in these two related families.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Consanguinity
  • Epidermolysis Bullosa / genetics*
  • Female
  • Genes, Recessive
  • Humans
  • Iraq / ethnology
  • Jews
  • Pedigree
  • Rothmund-Thomson Syndrome / genetics*
  • Skin Diseases / genetics*
  • Syndrome