{Reference Type}: Case Reports
{Title}: Recurrent Skin Ulcers with Facial Dysmorphism and Sinopulmonary Infections: Thinking Beyond Hyper-IgE Syndrome.
{Author}: Chidambaram AC;Sugumar K;Sundaravel S;Ramamoorthy JG;Bathula S;Dutta UR;
{Journal}: J Pediatr Genet
{Volume}: 13
{Issue}: 3
{Year}: 2024 Sep
暂无{DOI}: 10.1055/s-0041-1741007
{Abstract}: Prolidase deficiency (PD) is a rare inborn error of metabolism causing ulcers and other skin disorders, splenomegaly, developmental delay, and recurrent infections. Most of the literature is constituted of isolated case reports. It occurs due to the mutations in the prolidase gene ( PEPD ) that result in loss of prolidase activity. We reported here a child who had presented with features compatible with hyper-immunoglobulin E syndrome (HIES) like recurrent skin ulcers, recurrent infections, facial dysmorphism, retained primary teeth, and elevated levels of immunoglobulin E levels but with normal flow cytometric assays, which was later diagnosed as PD.