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

2022 ◽  
Author(s):  
Aakash Chandran Chidambaram ◽  
Kiruthiga Sugumar ◽  
Selvamanojkumar Sundaravel ◽  
Jaikumar Govindaswamy Ramamoorthy ◽  
Siddardha Bathula ◽  
...  
Keyword(s):  
Primary Teeth ◽  
Immunoglobulin E ◽  
Case Reports ◽  
Facial Dysmorphism ◽  
Recurrent Infections ◽  
Prolidase Deficiency ◽  
Hyper Ige Syndrome ◽  
Flow Cytometric ◽  
Skin Ulcers ◽  
Rare Inborn Error

AbstractProlidase 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.

scholarly journals Partial and Transient Clinical Response to Omalizumab in IL-21-Induced Low STAT3-Phosphorylation on Hyper-IgE Syndrome

2019 ◽  
Vol 2019 ◽  
pp. 1-5
Author(s):  
Cesar Daniel Alonso-Bello ◽  
María del Carmen Jiménez-Martínez ◽  
María Eugenia Vargas-Camaño ◽  
Sagrario Hierro-Orozco ◽  
Mario Alberto Ynga-Durand ◽  
...  
Keyword(s):  
Immunoglobulin E ◽  
High Serum ◽  
Recurrent Infections ◽  
Dominant Form ◽  
Cutaneous Manifestations ◽  
Serum Ige ◽  
Hyper Ige Syndrome ◽  
Stat3 Phosphorylation ◽  
Eczematous Dermatitis ◽  
Pulmonary Abnormalities

Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency characterized by elevated levels of immunoglobulin E (IgE), eczematous dermatitis, cold abscesses, and recurrent infections of the lung and skin caused by Staphylococcus aureus. The dominant form is characterized by nonimmunologic features including skeletal, connective tissue, and pulmonary abnormalities in addition to recurrent infections and eczema. Omalizumab is a humanized recombinant monoclonal antibody against IgE. Several studies reported clinical improvement with omalizumab in patients with severe atopic eczema with high serum IgE level. We present the case of a 37-year-old male with HIES and cutaneous manifestations, treated with humanized recombinant monoclonal antibodies efalizumab and omalizumab. After therapy for 4 years, we observed diminished eczema and serum IgE levels.

scholarly journals Clinical Profile of Hyper-IgE Syndrome in India

2021 ◽  
Vol 12 ◽  
Author(s):  
Biman Saikia ◽  
Amit Rawat ◽  
Ranjana W. Minz ◽  
Deepti Suri ◽  
Vignesh Pandiarajan ◽  
...  
Keyword(s):  
Rare Variant ◽  
Splice Site ◽  
Rare Variants ◽  
Bone Fractures ◽  
Case Reports ◽  
Genetic Diagnosis ◽  
Case Series ◽  
Facial Dysmorphism ◽  
Hyper Ige Syndrome ◽  
Group I

Introduction: Hyper-IgE Syndrome (HIES) is a rare inborn error of immunity (IEI) characterized by a constellation of symptoms related to susceptibility to Staphylococcal skin and pulmonary infections, eczema, raised serum IgE (>2,000 IU/ml), craniofacial anomalies, and recurrent bone fractures. Data on HIES from the Indian subcontinent is scarce and restricted to small case series and case reports. This is the first compilation of national data on HIES.Materials and Methods: A total 103 cases clinically diagnosed and treated as HIES were analyzed from nine centers. Cases with clinical and/or molecular diagnosis of DOCK8 deficiency were not included. Patients were divided into two groups: group I for whom a heterozygous rare variant of STAT3 was identified, and group II, with clinical features similar to those of AD STAT3 deficiency, but without any genetic diagnosis.Results: Genetic diagnosis was available in 27 patients (26.2%) and all harbored rare variants in the STAT3 gene. Majority of these STAT3 HIES patients presented with recurrent skin abscesses (77.7%) or pneumonia (62.9%) or both (59.2%). Other features included eczema (37%), candidiasis (55.5%), facial dysmorphism (55.5%), recurrent fractures (11.1%), and retained primary teeth (7.4%). Mycobacterial infections were seen in a significant 18.5%. Mortality was seen in three subjects (11.1%). A similar trend in the clinical presentation was observed when all the 103 patients were analyzed together. Twenty percent of patients without a rare variant in the STAT3 gene had an NIH score of ≥40, whereas, 51.9% of STAT3 HIES subjects had scores below the cut off of ≥40. TH17 cell numbers were low in 10/11 (90.9%) STAT3 HIES tested. Rare variants observed were 8 in exon 21; 8 in exon 13; 3 in exon 10; 2 in exon 15, and one each in exon 6, 16, 17, 19, 22, and splice site downstream of exon 12. Seven variants were novel and included F174S, N567D, L404Sfs*8, G419 =, M329K, T714I, R518X, and a splice site variant downstream of exon 12.Conclusions: The report includes seven novel STAT3 variants, including a rare linker domain nonsense variant and a CC domain variant. Mycobacterial diseases were more frequent, compared to western literature.

Hyper-IgE Syndrome in an Infant

2016 ◽  
Vol 20 (4) ◽  
pp. 340-342 ◽  
Author(s):  
Mariah Giberson ◽  
Laura Finlayson
Keyword(s):  
Clinical Presentation ◽  
Neonatal Period ◽  
Immunoglobulin E ◽  
Current Theory ◽  
Primary Immunodeficiency Disorder ◽  
Multisystem Disorder ◽  
Cutaneous Manifestations ◽  
Multiple Systems ◽  
Hyper Ige Syndrome ◽  
Immunodeficiency Disorder

Background: Hyper–immunoglobulin E syndrome (HIES) is a rare primary immunodeficiency disorder that affects multiple systems. One of the early findings is a papulopustular rash, which has a wide differential diagnosis. Method: The authors report the case of a male newborn diagnosed with HIES. He presented with papulopustular dermatitis on the scalp. The authors also present a review of current theory on the pathophysiology, clinical presentation, and management of HIES. Conclusion: Although HIES is a multisystem disorder, many of the manifestations of HIES may present after the neonatal period. The cutaneous manifestations of HIES are usually present shortly after birth, and the presentation of pustules in a newborn may be one of the reasons a dermatologist would be asked to assess a patient in the neonatal period.

Topical Treatment of Skin Ulcers in Prolidase Deficiency

1996 ◽  
Vol 13 (1) ◽  
pp. 58-60
Author(s):  
Gregor B. E. Jemec ◽  
April T. T. Moe
Keyword(s):  
Topical Treatment ◽  
Prolidase Deficiency ◽  
Skin Ulcers

Topical Treatment of Skin Ulcers in Prolidase Deficiency

1996 ◽  
Vol 13 (1) ◽  
pp. 58-60 ◽  
Author(s):  
Gregor B. E. Jemec ◽  
April T. T. Moe
Keyword(s):  
Topical Treatment ◽  
Prolidase Deficiency ◽  
Skin Ulcers

Hyper-IgE syndrome: a case report

2001 ◽  
Vol 25 (4) ◽  
pp. 333-336 ◽  
Author(s):  
E. Sepet ◽  
D. Özdemir ◽  
N. Aksakalli ◽  
G. Külekçig
Keyword(s):  
Primary Teeth ◽  
Pulmonary Infection ◽  
Elevated Serum ◽  
Hyper Ige Syndrome ◽  
Transmission Electron ◽  
Deciduous Molar ◽  
Reduced Rate ◽  
Therapeutic Doses ◽  
Anti Fungal ◽  
And Staphylococcus Aureus

The hyper-IgE syndrome (HIES) is a rare disorder characterized by pruritic dermatitis, recurrent Staphylococcus skin abscesses and extremely elevated levels of IgE in serum. In this report, an elevenyear-old-boy with hyper-IgE syndrome is presented. He had a coarse facial appearance, pruritic dermatitis, recurrent skin abscesses, pulmonary infection, a reduced rate of resorption of the roots of primary teeth and an elevated serum IgE concentration. The colonization of Candida albicans, Kiebsiella pneumoniae, Escherichia coli and Staphylococcus aureus were found as; (1x102 CFU), (2.2x104 CFU), (2.2x104 CFU) and (2.6x103 CFU) per ml saliva, respectively. Also the pulp of a deciduous molar was investigated with light and transmission electron microscope (TEM). As conclusion, treatment for this condition is lifelong administration of therapeutic doses of a penicillinase-resistant penicillin, with the addition of other antibiotics or anti-fungal agents as required for specific infections.

scholarly journals SUN-679 Early Onset Diabetes Mellitus in a Young Woman with Ring Chromosome 13 Syndrome

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Lauren Anne Buehler ◽  
Alexandra Mikhael ◽  
Robert S Zimmerman
Keyword(s):  
Diabetes Mellitus ◽  
Young Woman ◽  
Early Onset ◽  
Hemoglobin A1c ◽  
Case Reports ◽  
Ring Chromosome ◽  
Facial Dysmorphism ◽  
Gene Deletions ◽  
Chromosome 13 ◽  
History Of

Abstract Background: Ring chromosome 13 is a rare genetic disorder in which the two ends of chromosome 13 are fused together to form a ring shape. Ring formation subsequently leads to gene deletions on both the long and short arms of the chromosome. Observed phenotypes among these patients are variable due to differences in the number of genetic deletions that occur with fusion. Common clinical features seen in ring chromosome 13 include micro- or anencephaly, severe mental retardation (MR), ambiguous genitalia, growth retardation, and facial dysmorphism. To our knowledge, diabetes mellitus (DM) has only been reported in two published case reports of patients with ring chromosome 13. It has been proposed that development of DM in this syndrome may be due to deletion of the IRS2 gene on the long arm of chromosome 13. This hypothesis is based on evidence from knockout mice studies and genetic comparisons of ring chromosome 13 patients with and without DM. Clinical Case: We present a case of a 23-year-old woman with a known history of mosaic ring chromosome 13 abnormality who was diagnosed with DM at age 21. Diagnosis was made incidentally based on laboratory data obtained at a routine outpatient visit. Hemoglobin A1c at that time was 13.1%. Glutamic acid decarboxylase and insulin antibodies were negative. She has been on a basal-bolus insulin regimen since diagnosis with overall good glycemic control (average hemoglobin A1c 6.5%). She has no known micro- or macrovascular complications of DM. She has no family history of chromosome 13 syndrome or DM. Other notable clinical features associated with her ring chromosome 13 disorder include MR, spastic encephalopathy, delayed puberty (menarche at age 18), scoliosis, facial dysmorphism, and deficiencies in clotting factors 7 and 10. Conclusion: DM is a common disorder that is typically multifactorial in etiology. In rare cases, DM can be the result of monogenic mutations or deletions. We present a case of a young woman with early-onset antibody-negative DM thought to be related to gene deletions resulting from her underlying ring chromosome 13 abnormality. There is some evidence from prior case reports and rodent studies to suggest that DM in patients with this disorder may be the result of IRS2 deletion from the long arm of chromosome 13. Although DM is a rare complication of ring chromosome 13 disorder, early screening should be considered in these patients to prevent development of downstream complications. References: 1. Babaya N, Noso S, Hiromine Y, Ito H, Taketomo Y, Yamamoto T, Kawabata Y, Ikegami H. Early-Onset Diabetes Mellitus in a Patient With a Chromosome 13q34qter Microdeletion Including IRS2. J Endocr Soc. 2018 Sep 11;2(10):1207-1213. 2. Lagergren M, Börjeson M, Mitelman F. Prophase analysis of ring chromosome 13--an attempt at phenotype-karyotype correlation. Hereditas. 1980;93(2):231-3.

scholarly journals IMPACTION OF PRIMARY TEETH ASSOCIATED WITH ODONTOMA: CASE REPORTS

2012 ◽  
Vol 39 (1) ◽  
pp. 36-42 ◽  
Author(s):  
Jung-Woo Kim ◽  
Teo-Jeon Shin ◽  
Hong-Keun Hyun ◽  
Young-Jae Kim ◽  
Jung-Wook Kim ◽  
...  
Keyword(s):  
Primary Teeth ◽  
Case Reports
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