Recurrent Skin Ulcers with Facial Dysmorphism and Sinopulmonary Infections: Thinking Beyond Hyper-IgE Syndrome

Area of Science:

• Biochemistry
• Genetics
• Immunology

Background:

• Prolidase deficiency (PD) is a rare inherited metabolic disorder.
• It results from mutations in the prolidase gene (PEPD), leading to decreased enzyme activity.
• PD is characterized by skin issues, developmental delays, and infections.

Observation:

• A child presented with symptoms mimicking hyper-immunoglobulin E syndrome (HIES).
• These symptoms included recurrent skin ulcers, infections, facial differences, and delayed tooth shedding.
• The child also had elevated immunoglobulin E levels but normal immune cell function tests.

Findings:

• The child was diagnosed with prolidase deficiency (PD).
• This case underscores the overlap in clinical presentations between PD and HIES.
• Genetic analysis confirmed mutations in the PEPD gene.

Implications:

• This case expands the differential diagnosis for HIES-like presentations.
• Early diagnosis of PD is crucial for managing its associated complications.
• Further research is needed to understand the phenotypic variability of PD.