A Rare Cause of Lower Extremity Ulcers: Prolidase Deficiency

ADIŞEN E., Erduran F. B., EZGÜ F. S., Kasapkara C. S., Besio R., Forlino A., ...Daha Fazla

INTERNATIONAL JOURNAL OF LOWER EXTREMITY WOUNDS, cilt.15, sa.1, ss.86-91, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 15 Sayı: 1
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1177/1534734615619550
  • Dergi Adı: INTERNATIONAL JOURNAL OF LOWER EXTREMITY WOUNDS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.86-91
  • Anahtar Kelimeler: prolidase deficiency, recalcitrant, extremity ulcers, telangiectasias, SKIN ULCERS, PATIENT, BOY
  • Gazi Üniversitesi Adresli: Evet

Özet

Prolidase deficiency is an autosomal recessive disorder, which is associated with chronic skin ulcers, a characteristic facial appearance, mental retardation, and recurrent infections. This study describes 4 patients with recurrent leg ulcerations and abnormal facies who were first clinically suspected of prolidase deficiency and then biochemically confirmed. Two siblings and 2 other patients were admitted to our clinic at different times, and they had some common features such as chronic leg and foot ulcers recalcitrant to treatment, consanguineous parents, facial dysmorphism, mental retardation, and widespread telangiectasias. Physical examination and detection of low prolidase level in blood finally led us to the diagnose of ulcers secondary to prolidase deficiency. Prolidase deficiency is a rare genodermatosis and must be considered in the differential diagnosis of recurrent leg and foot ulcers that develop at an early age.