|LETTER TO EDITOR
|Year : 2017 | Volume
| Issue : 1 | Page : 73-75
Hyper-immunoglobulin E (Job's syndrome): A rare case report
Shubhankar Mishra1, Sunil K Agarwalla1, Sadhana Panda1, Ashis K Patel2
1 Department of Paediatrics, MKCG Medical College, Berhampur, Odisha, India
2 Department of Dermatology, MKCG Medical College, Berhampur, Odisha, India
|Date of Web Publication||12-Dec-2016|
Department of Paediatrics, MKCG Medical College, Berhampur, Odisha
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Mishra S, Agarwalla SK, Panda S, Patel AK. Hyper-immunoglobulin E (Job's syndrome): A rare case report. Indian J Paediatr Dermatol 2017;18:73-5
|How to cite this URL:|
Mishra S, Agarwalla SK, Panda S, Patel AK. Hyper-immunoglobulin E (Job's syndrome): A rare case report. Indian J Paediatr Dermatol [serial online] 2017 [cited 2019 Aug 23];18:73-5. Available from: http://www.ijpd.in/text.asp?2017/18/1/73/184335
First described in 1966, the hyper-immunoglobulin E syndrome (HIES) is a rare immunodeficiency disorder. Two forms of HIES are recognized as a dominant form, caused by mutations in STAT3 gene and a recessive form due to unknown cause, although some cases are due to mutations in the gene TYK 2. Exact incidence is unknown due to very rare incidence.
An eleven-year-old male child (product of consanguineous marriage) presented to pediatric outpatient department with history of postinfective skin pigmentation, itching, and exfoliation, abscess since 1 year, cough for 1 month, and high-grade fever for 3 days. The child had similar respiratory infection every year. He had a history of delay in shedding of primary teeth. The first sibling (male) died with similar complaint and similar features at the age of 2 years due to staphylococcal sepsis. The second is healthy female child. Previously, our patient was treated repeatedly by emollients and steroids for atopy. On examination, the child had an old man like face. He had broad forehead, long face, small eyes, low set ears, small mouth, and abnormal depression in head [Figure 1]. He had itchy atopic excoriating skin over face, groin, and chest. There were multiple pustules all over face, eye, chest, and back. Right side arms were drooping [Figure 2]. Multiple cold abscesses were present in the back [Figure 3]. There were severe pallor, significant lymphadenopathy in cervical, axillary, and inguinal region. On respiratory examination, right side respiratory sounds were diminished with the presence of consolidation. Neurological examination revealed hypotonia and areflexia in right lower leg. On investigation, we got hemoglobin 7.6gm/dl, total leukocyte count 17,400 (N-30, E-46, L-24), total platelet count 3.4 L, erythrocyte sedimentation rate was 130 mm in 1st hour. and C-reactive protein was positive. Comment on peripheral smear showed microcytic anemia with eosinophilia, antibody test for HIV Virus was negative. Sputum acid-fast bacilli were negative. Fine needle aspiration cytology of the abscess showed organized abscess of Staphylococcus aureus. Serum IgE was 5970 IU/ml. Chest X-ray showed right lower lobe opacity. X-ray spine showed scoliosis [Figure 2]. NIH scoring for HIES was 57 [Table 1]. The child was treated in the line of Jobs syndrome with antimicrobials for 2 weeks. He recovered and was discharged with prophylactic antibiotics and bleach bath education.
|Figure 1: Abnormal facies: Broad forehead, long face, small eyes, low set ears, small mouth, and abnormal depression in head with poikilodermatoses, scaling, eczematization with facial dyschromasia|
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Job was a biblical character tormented with plagues of boils. Due to multiple staph infections, the disease is named after it. HIES (autosomal dominant-HIES) often appears early in life with recurrent staphylococcal and candidal infections, pneumonias, lymphadenitis, and eczematous skin. Characteristic facial, dental, and skeletal abnormalities have also been described. Patients with HIES have delay or failure in shedding of primary teeth. Features are facial asymmetry, a prominent forehead, deep-set eyes, broad nasal bridge, wide, fleshy nasal tip, mild prognathism, and rare malformation - craniosynostosis. In addition, facial skin could be rough with prominent pores. Finally, some patients have scoliosis, as well as bones that fracture easily. Although chronic dermatitis in the HIES is described as eczema, it is doubtful if this rash really presents as atopic dermatitis. Skin biopsies reveal eosinophilic infiltration related to eosinophilic folliculitis. Skin lesions are mostly seen axillary, inguinal region, or under the breasts. “Cold” abscesses, observed in patients, not on antibiotic prophylaxis, are pathognomonic for the HIES, but not a diagnostic feature. Upper airway infections manifest as paranasal sinusitis, exudative otitis media, otitis externa, and mastoiditis. S. aureus is the most frequently isolated, but Streptococcus pneumoniae, Haemophilus influenzae, and enteric Gram-negative bacteria. Pneumonia is frequently followed by pneumatocele or bronchiectasis, bronchopleural fistulas, lung abscesses. Pulmonary cause leads to chronic respiratory insufficiency resulting in death. Hemoptysis complicating lung abscess and cystic lung disease are the next common cause of death. Ophthalmic involvement leads to strabismus, cataract, retinal detachment, etc. They are more prone to autoimmune disorders, aneurysms and lymphoproliferative syndromes. Autosomal recessive HIES possess similar features, but they have fatal neurological abnormalities and early presentations. Serum IgE concentrations are extremely high in patients with HIES (>2000 IU/ml). Eosinophilia is the other consistent laboratory finding. A scoring system that weighted both the immunologic and somatic features of the syndrome was designed to aid in the clinical diagnosis of these patients, and it is accepted by NIH. ≥15 points makes HIE phenotype highly probable. In our patient, the score was 57.
Treatment consists of prevention and management of infections. Skin abscesses should be incised and drained. Interferon-gamma, intravenous Ig have some proven benefits. In contrast to atopic dermatitis in HIES, skin changes frequently improve only after antibiotic treatment.
Declaration of Patient Consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
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Conflicts of Interest
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| References|| |
Grimbacher B, Holland SM, Puck JM. Hyper-IgE syndromes. Immunol Rev 2005;203:244-50.
Woellner C, Gertz EM, Schäffer AA, Lagos M, Perro M, Glocker EO, et al.
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol 2010;125:424-32.e8.
Szczawinska-Poplonyk A, Kycler Z, Pietrucha B, Heropolitanska-Pliszka E, Breborowicz A, Gerreth K. The hyperimmunoglobulin E syndrome – Clinical manifestation diversity in primary immune deficiency. Orphanet J Rare Dis 2011;6:76.
Freeman AF, Kleiner DE, Nadiminti H, Davis J, Quezado M, Anderson V, et al.
Causes of death in hyper-IgE syndrome. J Allergy Clin Immunol 2007;119:1234-40.
Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, et al.
Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med 2009;361:2046-55.
Grimbacher B, Schäffer AA, Holland SM, Davis J, Gallin JI, Malech HL, et al.
Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet 1999;65:735-44.
[Figure 1], [Figure 2], [Figure 3]