Ulcus cruris associated with prolidase deficiency

Area of Science:

• Biochemistry
• Genetics
• Dermatology

Background:

• Prolidase (peptidase-D) is crucial for collagen biosynthesis, impacting connective tissue integrity.
• Deficiency in prolidase leads to impaired function of skin, capillaries, and lymphatic vessels.
• Prolidase deficiency is an autosomal recessive disorder with a range of clinical manifestations.

Observation:

• A 33-year-old woman presented with a 15-year history of a nonhealing left pretibial ulcer.
• The patient also exhibited splenomegaly, hypochromic microcytic anemia, and thrombocytopenia.
• Typical findings include chronic, recurrent leg ulcers presenting in early childhood.

Findings:

• The patient's symptoms are consistent with prolidase deficiency.
• This case highlights the long-term presentation of the disorder.
• Laboratory findings correlated with the known hematological anomalies associated with prolidase deficiency.

Implications:

• Prolidase deficiency is a rare genodermatosis that requires consideration in differential diagnoses.
• Early identification of prolidase deficiency is essential for timely management and intervention.
• Understanding the biochemical basis of prolidase deficiency aids in diagnosing and managing connective tissue disorders.