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J Pediatr Genet
DOI: 10.1055/s-0041-1741007
Case Report

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

Aakash Chandran Chidambaram
1   Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India
,
Kiruthiga Sugumar
1   Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India
,
Selvamanojkumar Sundaravel
1   Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India
,
Jaikumar Govindaswamy Ramamoorthy
1   Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India
,
Siddardha Bathula
2   Diagnostics Division, Center for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India
,
Usha R. Dutta
2   Diagnostics Division, Center for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India
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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.

Keywords

Prolidase deficiency - Hyper-IgE - dysmorphism - immunodeficiency - skin ulcer

Authors' Contributions

A.C.C., K.S., and S.S. managed the patient, reviewed the literature, and drafted the manuscript. J.G.R. managed the patient, reviewed the manuscript, and critically revised the manuscript. S.B. had done the sequencing experiments, U.R.D. had conceptualized and designed the primers and sequence analysis. All authors contributed to reviewing of literature, drafting of the manuscript, and approved the final version of the manuscript. J.G.R. shall act as the guarantor of the paper.




Publication History

Received: 25 September 2021

Accepted: 22 November 2021

Article published online:
12 January 2022

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