A Case Report of Neonatal Omenn Syndrome Presenting as Striking Erythroderma

Case Report

J Pediatr & Child Health Care. 2020; 5(2): 1034.

A Case Report of Neonatal Omenn Syndrome Presenting as Striking Erythroderma

Duan XY1, Zhao QQ2 and Wei H2*

¹Department of Neonatology, Children's Hospital of Chongqing Medical University, China

²Department of Neonatology, Children's Hospital of Chongqing Medical University, China

*Corresponding author: Wei H, Medical Doctor, Department of Neonatology, Children’s Hospital of Chongqing Medical University, Chongqing Medical University, Postal Address: No.136, Zhong Shan 2nd Road, Yuzhong District, Chongqing, 400014, China

Received: May 13, 2020; Accepted: June 05, 2020; Published: June 12, 2020


Background: Omenn Syndrome (OS) is a kind of Serious Combined Immunodeficiency Disease (SCID). A variety of genetic defects responsible for lymphocyte or thymic development can give rise to OS, of which the Recombinase- Activating Genes (RAG1 and RAG2) being the best characterised. It is often misdiagnosed and progressively deteriorated due to the limit knowledge in early life of children.

Case Presentation: We present herein a typical case of Omenn syndrome that initially manifested as diffuse erythroderma in a 2-day-old newborn.

Conclusions: The age of Omenn syndrome onset was earlier. Typical clinical features include erythroderma and immune dysfunction. Immunodeficiency must be considered in every case of neonatal erythroderma and immunological evaluation should be performed as soon as possible. Genetic study confirms the diagnose. We found two novel mutations in RAG1 could cause Omenn syndrome.

Keywords: Neonate; Omenn syndrome; SCID; Erythroderma


Omenn Syndrome (OS) is a form of Severe Combined Immunodeficiency Disease (SCID) characterized by erythroderma, hepatosplenomegaly, lymphadenopathy, and alopecia. It is reported that the incidence of the disease is 1/500,000~1/100,000 abroad. Puzenat E [1] et al. reported that the incidence ratio of male to female was about 1:1. In patients with OS, B cells are mostly absent, T cell counts are normal to elevated, and T cells are frequently activated and express a restricted T-Cell Receptor (TCR) repertoire [2]. In recent years, with the increasing awareness of Omenn syndrome, more and more cases have been reported, but few cases have been reported in neonates to date. We herein present a very rare case of Omenn syndrome whose most outstanding manifestation is erythroderma and which was diagnosed in a short period of time after birth by gene detection. At the same time, two novel mutations of Recombination- Activating Gene Complex 1(RAG1) c.3072-c.3073 insT and c.2190 delT were found, which enriched the RAG1 gene mutation database.

Case Presentation

A 2-day-19-hour-old baby boy at full term was admitted to our Neonatology Ward II in our hospital on an emergency basis because of “polypnea and dermatological abnormalities for 2 days”. At birth, he had unusual-looking skin characterized as rough skin, diffuse erythema, and yellow-white secretions over his body, mainly in the head and face, then progressed to dry and partial cracked skin with oily colloidal substance covering his entire body, accompanied by jaundice and slight eyelid edema. The whole thing looks like parchment (Figure 1 A,B). In the meantime, he had polypnea without fever, cough, foaming, cyanosis and progressive dyspnea. In the course of the disease, he had no screaming, seizures, vomiting and diarrhea. Since the onset of disease, his spirit and reaction are normal, crying and sucking force are good, bowel movement and urination are as usual. The child was the 4th fetus and the 2nd birth, cesarean delivery due to “giant”, birth weight was 3575g, apgar score was normal, formula milk feeding, no history of blood transfusion, and no similar medical history in the family.