Article

Self-limited autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia in a Kirghizian family

  1. Dr. S. I. Kozlova*,
  2. B. A. Altshuler,
  3. V. L. Kravchenko,
  4. John M. Opitz Editor

Article first published online: 2 JUN 2005

DOI: 10.1002/ajmg.1320150204

Issue

American Journal of Medical Genetics

American Journal of Medical Genetics

Volume 15, Issue 2, pages 205–210, June 1983

Additional Information

How to Cite

Kozlova, S. I., Altshuler, B. A., Kravchenko, V. L. and Opitz, J. M. (1983), Self-limited autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia in a Kirghizian family. Am. J. Med. Genet., 15: 205–210. doi: 10.1002/ajmg.1320150204

Author Information

  1. Laboratory of Clinical Genetics, Institute of Medical Genetics of the Academy of Medical Sciences of the USSR, Moscow

*Head Laboratory of Clinical Genetics, Institute of Medical Genetics of the Academy of Medical Sciences of the USSR, Moskvorechye, 1, Moscow 115478, USSR

Publication History

  1. Issue published online: 2 JUN 2005
  2. Article first published online: 2 JUN 2005
  3. Manuscript Revised: 18 DEC 1982
  4. Manuscript Received: 3 MAR 1982

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Keywords:

  • Kirghizian dermatoosteolysis;
  • autosomal recessive disorder;
  • arthroosteolysis;
  • skin ulceration;
  • oligodontia;
  • keratitis

Abstract

We report on a previously apparently undescribed Puretic syndrome-like self-limited autosomal recessive disorder with onset in infancy and running its course by 11 yr in five sibs in a Kirghizian family with recurrent skin ulceration, arthralgias, fever, fistulous osteolysis around joints, oligodontia, nail dystrophy and keratitis with visual impairment or blindess in three of the five affected sibs. Affected hands and feet acquire a pseudoacromegalic appearance; fingers become clawed; involvement of growth plates around knees may lead to asymmetrical shortness with secondary scoliosis.

Slow but normal healing during and after the course of the disease leaves severe cicatrization and chronic arthroses. No other organ system is involved, intellect is normal, and health and reproductive capacity are otherwise unimpaired. We propose the name Kirghizian dermatoosteolysis for this condition.

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