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CASE REPORT
Year : 2015  |  Volume : 16  |  Issue : 2  |  Page : 96-98

Job's syndrome in a pediatric patient: Case report and the clinical review


1 Department of Pharmacy Practice, Manipal College of Pharmaceutical Sciences, Manipal University, Manipal, India
2 Department of Pharmaceutics, KLEU's College of Pharmacy, Belgaum, Karnataka, India

Date of Web Publication9-Apr-2015

Correspondence Address:
Ajit Singh
Department of Pharmacy Practice, Manipal College of Pharmaceutical Sciences, Manipal University, Manipal 576 104, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2319-7250.152133

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  Abstract 

Job's syndrome or hyper-immunoglobulin E syndrome (HIES) is a heterogeneous complex of immunodeficiencies distinguishes by skin abscesses, recurrent pneumatoceles or staphylococcal infections, high serum immunoglobulin E levels and eczematous dermatitis. It has two types depends on type of gene involved; autosomal-dominant HIES (AD-HIES), which develops due to signal transducer and activator of transcription 3 gene and autosomal recessive HIES caused by DOCK8 gene mutation. Hereby we present a case of 13-month-old male child who admitted to our hospital with pustular lesions on the neck, face and upper chest associated with itching; some of these were hemorrhaged and crusted. The complete clinical presentation and lab investigations have confirmed AD-HIES syndrome. The therapeutic strategy was directed mainly toward the prevention and management of infections and symptoms. This case presents the clinical features, investigational procedures and management strategy for that particular condition in pediatrics.

Keywords: Buckley syndrome, eczematous dermatitis, hyper-immunoglobulin E syndrome, pediatrics infections


How to cite this article:
Singh A, Khera K, Karanam A, Chauhan S. Job's syndrome in a pediatric patient: Case report and the clinical review. Indian J Paediatr Dermatol 2015;16:96-8

How to cite this URL:
Singh A, Khera K, Karanam A, Chauhan S. Job's syndrome in a pediatric patient: Case report and the clinical review. Indian J Paediatr Dermatol [serial online] 2015 [cited 2020 Nov 25];16:96-8. Available from: https://www.ijpd.in/text.asp?2015/16/2/96/152133


  Introduction Top


Job's syndrome or hyper-immunoglobulin E syndrome (HIES) is a rare primary immunodeficiency disorder first described by Davis et al. in 1966; develops due to mutations in signal transducer and activator of transcription 3 (STAT3) or DOCK8 gene. It is characterized by high levels of immunoglobulin E syndrome (IgE), recurrent fungal and/or bacterial infections of soft tissues, eczematous dermatitis, and the tendency for vascular abnormalities. Hereby we present a case of 13-month-old male child who shown the classical symptoms of Job's syndrome. Literature revealed that very few cases of Job's syndrome in pediatrics have been published till now. Due to its rarity, this case report shed light on clinical features, investigational procedures and management strategy opted in this particular case.


  Case report Top


A 13-month-old male child was admitted to the pediatric ward with complaints of pustular lesions on the neck, face and upper chest for 5 days, primarily on the neck and spread to face and chest. Physical examination showed multiple pustular lesions associated with itching and abscesses around the neck, concentrated around the parotid region few of which had hemorrhaged and crusted. Lesions were also observed around the forehead and ears accompanied by hypo-pigmented macules. Patient had high grade, intermittent fever for 3 days with decreased appetite. Mild cervical lymphadenopathy was also observed. Patient has cried for most of time and shown irritable. Family history was not significantly related to condition.

Biochemical investigations revealed a hemoglobin level 6 g/dL, red cell distribution width 24.5%, total leucocyte count 21,000 cells/mm 3 with increase in neutrophiles, and serum IgE levels 1892 IU/mL. Microcytic, hpypochromic erythrocytes were observed on Peripheral smear along with elliptocytes, spherocytes, and target cells. Pus and exudate culture reported growth of methicillin resistant Staphylococcus aureus (MRSA), sensitive to tetracycline, amikacin, clindamycin, linezolid, teicoplanin and vancomycin and combination of amoxicillin-clavulanic acid.

On admission, the child was started on paracetamol syrup 120 mg along with 300 mg injection of amoxicillin-clavulanic acid combination (250 + 50 mg) and amikacin 80 mg every 12 h. Ketoconazole bath was given to the child and neosporin ointment (bacitracin, neomycin, and polymyxin) was applied on the lesions along with fresh dressings. Mupirocin with tetralid (tetracaine and lidocaine) ointments were also prescribed for application on the pustules of neck and forehead. Cyproheptadiene 2 mg twice daily tablet, an antihistaminic was later added to the regimen as an antiallergy drug. The above regimen was followed for a week after which the antibiotics were discontinued. Wound dressings were done daily along with the application of local antibiotics (neosporin and mupirocin). An iron supplement was added on the 7 th day in the form of syrup in view of anemia.

Empirically amoxicillin combination with clavulanic acid and amicakin were started and continued as the MRSA was found to be sensitive to these antibiotics. During the course of treatment, fever subsided, and the child became normal. The lesions were healing, and no new lesions were seen. The parents of the patient asked for the discharge on 10 th day in the hospital even though the child was still anemic. On discharge, the child was prescribed with syrup paracetamol 120 mg as and when required, along with the syrup amoxicillin and clavulanic acid combination 100 mg twice daily and syrup cotrimoxazole 30 mg twice daily for 7 days. The parents were asked to bring the child for follow-up in pediatrics outpatient department after 2 weeks.


  Discussion Top


Hyper-immunoglobulin E syndrome also known as Job's syndrome and Buckley syndrome is distinguished by skin abscesses, recurrent pneumatoceles or staphylococcal infections, high serum IgE levels, and eczematous dermatitis. It is classified as autosomal-dominant HIES (AD-HIES), which develops due to STAT3 gene and autosomal recessive HIES caused by DOCK8 gene mutation. AD-HIES is described as a multisystem disorder with various vascular, skeletal, and connective tissue abnormalities. Dominant-negative mutations in STAT3 are responsible for most cases of AD-HIES. Elevated serum levels of IgE along with recurrent pustular eczematoid rashes of face and scalp worsened by S. aureus infections during infancy are classical symptoms of AD-HIES. [1] Gene analysis for this patient was not done due to economic considerations, but it is confirm from the clinical presentation that we are dealing with autosomal-dominant type HIES.

Some patients have prominent oral and facial findings that develop from childhood through the teenage years. Facial asymmetry, prominent forehead, broad nose, deep eyes, rough facial skin, and retention of primary teeth are few of the developmental abnormalities observed in patients. [2] The HIES brings about an increased risk of severe recurrent respiratory infections, pneumonias [3] and autoimmune diseases like systemic lupus erythemathosus, [4] dermatomyositis and membranoproliferative glomerulonephritis. [5],[6] Still an infant, our patient needs constant follow-up to check for the above mentioned syndromes.

The therapeutic strategy in HIES is directed mainly toward the prevention and management of infections. Systemic antibiotics and antifungal drugs are of great importance, as they can prevent serious, overwhelming infections and prevent lung parenchymal damage; [3] trimethoprim-sulfamethoxazole or amoxicillin-clavulinic acid used as frequent choice. [7] The use of long-term antibacterial chemotherapy, including antistaphylococcal activity in its spectrum, e.g. trimethoprim/sulfamethoxazole, semisynthetic penicillins or cephalosporins, significantly contributes to the reduction of skin abscesses and staphylococcal pneumonias. [8] Immunomodulatory agents in HIES have not been well-studied. Intravenous immunoglobulin may decrease the number of infections for some individuals and is the most frequent immunomodulator used. [9] Similarly, use of neosporin and mupirocin for local application was justified. IgE (being the primary mediator of allergy) being high in this case, cyproheptadiene was indicated. Other drugs were given symptomatically and patient responded well.

Although several questions about the syndrome are yet to be answered, it can be said that early diagnosis and proper prophylaxis with antibiotics and antifungals are the mainstay of the therapy. Our patient being just 13-month-old at the time of diagnosis has helped us select an appropriate prophylactic therapy (cotrimoxazole with amoxicillin-clavulinate). Due to the early diagnosis, the physician can now take appropriate steps to prevent or correct and developmental abnormalities to which AD-HIES patients are susceptible to. The same hold true for infections or diseases to which the patient may have an increased risk.


  Acknowledgment Top


We are very thankful to Institutional Ethical Committee of Kasturba Medical College and Hospital, Manipal, India which permitted us to use the patient records for making the manuscript; for publication purpose.

 
  References Top

1.
Freeman AF, Holland SM. Clinical manifestations, etiology, and pathogenesis of the hyper-IgE syndromes. Pediatr Res 2009;65 (5Pt 2):32R-7.  Back to cited text no. 1
    
2.
Rael EL, Marshall RT, McClain JJ. The Hyper-IgE syndromes: Lessons in nature, from bench to bedside. World Allergy Organ J 2012;5:79-87.  Back to cited text no. 2
    
3.
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.  Back to cited text no. 3
    
4.
Grimbacher B, Holland SM, Puck JM. Hyper-IgE syndromes. Immunol Rev 2005;203:244-50.  Back to cited text no. 4
    
5.
Brugnoni D, Franceschini F, Airò P, Cattaneo R. Discordance for systemic lupus erythematosus and hyper IgE syndrome in a pair of monozygotic twins. Br J Rheumatol 1998;37:807-8.  Back to cited text no. 5
    
6.
Tanji C, Yorioka N, Kanahara K, Naito T, Oda H, Ishikawa K, et al. Hyperimmunoglobulin E syndrome associated with nephrotic syndrome. Intern Med 1999;38:491-4.  Back to cited text no. 6
    
7.
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.  Back to cited text no. 7
    
8.
Tanaka H, Ito R, Onodera N, Waga S. Efficacy of long-term sulfamethoxazole-trimethoprim therapy in a boy with hyperimmunoglobulin E syndrome. Tohoku J Exp Med 1998;186:61-6.  Back to cited text no. 8
    
9.
Kimata H. High-dose intravenous gamma-globulin treatment for hyperimmunoglobulinemia E syndrome. J Allergy Clin Immunol 1995;95:771-4.  Back to cited text no. 9
    



This article has been cited by
1 Job’s Syndrome: A Rare Case Report
S. Richa,Himani Bhasin,Bishnupriya Sahoo,Pankaj Abrol,Shashi Sharma
Clinical Pediatrics. 2020; 59(4-5): 505
[Pubmed] | [DOI]



 

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