Autosomal recessive prolidase deficiency. Three patients with recalcitrant ulcers

Arch Dermatol. 1981 Nov;117(11):689-97.

Abstract

Three patients had prolidase deficiencies. The family pedigree of these three patients suggests that this rare disorder is inherited through an autosomal recessive gene. this genodermatosis is characterized by a number of signs and symptoms referable to the skin, CNS, teeth, ears, nose, throat, eyes, bones, and joints. Among the skin changes, recalcitrant leg ulcers are the most characteristic. At this time, there is no established method of treatment of this rare disorder, but the use of dapsone was helpful in the treatment of one of our patients.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Dipeptidases / deficiency*
  • Dipeptidases / genetics
  • Female
  • Humans
  • Intellectual Disability / etiology
  • Intellectual Disability / genetics
  • Leg Ulcer / etiology*
  • Leg Ulcer / genetics
  • Leg Ulcer / pathology
  • Male
  • Pedigree
  • Proline / deficiency
  • Proline / genetics
  • Skin / pathology

Substances

  • Proline
  • Dipeptidases
  • proline dipeptidase