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Year : 2017  |  Volume : 18  |  Issue : 2  |  Page : 145-147

Autoimmune hypothyroidism in jobs syndrome: An extremely rare finding

Department of Dermatology, STDs and Leprosy, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, Uttar Pradesh, India

Date of Web Publication27-Mar-2017

Correspondence Address:
Tasleem Arif
Al-Rahman Apartment, Ground Floor, Behind Zakaria Market, New Sir Syed Nagar, Civil Lines, Aligarh, Uttar Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2319-7250.193033

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How to cite this article:
Arif T, Adil M, Amin SS. Autoimmune hypothyroidism in jobs syndrome: An extremely rare finding. Indian J Paediatr Dermatol 2017;18:145-7

How to cite this URL:
Arif T, Adil M, Amin SS. Autoimmune hypothyroidism in jobs syndrome: An extremely rare finding. Indian J Paediatr Dermatol [serial online] 2017 [cited 2021 Feb 28];18:145-7. Available from: https://www.ijpd.in/text.asp?2017/18/2/145/193033


Hyper IgE syndrome (HIES), previously referred to as Job's syndrome, is a rare immunodeficiency syndrome characterized by extremely high levels of serum IgE, eosinophilia, recurrent skin and pulmonary infections, and a chronic eczematous rash. The term HIES has been preferred after Buckley's observation that elevated IgE is a cardinal feature of the disease. Several features unrelated to immune dysfunction such as a distinct facies, cleft lip and palate, hyperextensible joints, bony fractures, failure of the primary teeth to fall, and vascular abnormalities are also associated with the disease.[1] We report a case of HIES with classical features but with associated autoimmune hypothyroidism. The occurrence of autoimmune hypothyroidism in Job's syndrome has not been previously reported to the best of our knowledge which prompted us to report the same.

A 22-year-old male presented with mildly itchy, red, scaly lesions over the hands, feet, and body folds present since the neonatal period. The lesions have been persistent, though they used to decrease after the application of some topical medications prescribed by private practitioners. There is a history of recurrent skin and lung infections. He had undergone an abdominal surgery for burst abdomen 10 years ago, the reason of which was unknown due to unavailability of documents. Antenatal and birth histories were insignificant, and there was no history of consanguineous marriage. The patient had shown delayed developmental milestones and was mentally retarded. There was no history of seizures, photosensitivity, recurrent bone fractures, or vascular abnormalities.

On examination, the patient was found to have coarse facies, broad nose with increased interalar distance, prominent forehead, and prognathism. The lower eyelids were puffy with an extra skin fold [Figure 1]. Psoriasiform plaques with silvery white scales were present on the knees, elbows, distal third of forearms and legs, dorsae of hands and feet, gluteal region, and on the bilateral popliteal fossae and right cubital fossa [Figure 2] and [Figure 3]. The patient also had a large, tender abscess near the umbilical area exuding pus. A median surgical scar on the umbilicus was present. The toe nails showed thinning and roughening of the nail plates. The mucosae were normal. Ring cataracts, not impairing vision, were detected in both eyes. Hearing was normal. KOH examination of the scrapings from nail and skin lesions was unremarkable. Skin biopsy from the leg lesion showed hyperkeratosis, acanthosis, spongiosis, elongation of rete ridges, and mild lymphocytic infiltration, suggestive of eczematous dermatitis. Staphylococcus aureus was isolated from the abscess which was sensitive to cloxacillin. The patient was found to be hypothyroid with markedly increased thyroid-stimulating hormone (98.7 mIU/L; normal range 0.4–4 mIU/L) and decreased T3 = 0.1 nmol/L (normal range; 1.2–2.8 nmol/L) and T4 = 2.2 nmol/L (normal range; 60–160 nmol/L) levels. Antithyroid peroxidase antibodies were significant (270 IU/ml; normal range is <35 IU/ml). Ultrasonography of the neck was unremarkable. Chest radiograph revealed cardiomegaly with normal lung fields. Sinus bradycardia was present on electrocardiography. Serum IgE was found to be markedly raised (7211 IU/ml; normal range: 150–300 IU/ml). The level of other immunoglobulins was normal. His absolute eosinophil count was 730/μl (normal value <450/μl). HIV screening was nonreactive. Based on clinical findings of recurrent skin and lung infections, raised IgE, peripheral blood eosinophilia, and histopathology findings suggestive of eczema, a diagnosis of HIES was made.
Figure 1: A distinct facies with deep set eyes and increased interalar distance, prognathism, and broad forehead. An abscess in the periumbilical region is visible. Also, erythematous rash with scaling on the right cubital fossa is present

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Figure 2: Psoriasiform plaques with silvery white scales present over the knees, lower third of legs, and dorsum of the feet. Thinned and roughened nail plates can also be seen

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Figure 3: Psoriasiform plaques over the dorsum of hands

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HIES is a rare multisystem disease inherited as autosomal dominant trait with variable expression characterized by recurrent pulmonary and skin infections, eczema, and raised IgE.[2] An autosomal recessive form with increased susceptibility to viral infections, autoimmune diseases, and malignancies has been described by Renner et al.[3] Our patient had the typical infection profile of the autosomal dominant HIES, though a family history was not elicited.

Extremely high values of IgE, usually more than 2000 IU, is the hallmark of HIES. Peripheral blood eosinophilia is present in as many as 93% of the patients.[4] The disease first presents in the neonatal period as an eczematous rash. The rash in our patient had a psoriasiform character, a feature rarely described previously.[5] Recurrent staphylococcal abscesses are present in HIES, some of which might not manifest the cardinal signs of inflammation, hence called cold abscesses. Recurrent pneumonias occur that may heal to form pneumatoceles and bronchiectasis. About 77% of the patients had pneumatoceles in the group studied by Grimbacher.[4] Pherwani, however, found pneumatoceles and bronchiectasis in only one of the six Indian patients of HIES, though pneumonia was present in all patients.[6] Our patient also had recurrent skin and pulmonary infections, though chest radiography was normal. Nail clubbing and nail candidiasis have been described but not the thinning and roughening of nail plates as seen in our patient. A characteristic facies with coarse skin, fleshy nose, and broad forehead has been described, which was present in our patient.[7] Bony abnormalities such as osteopenia, pathological fractures, scoliosis, vertebral column anomalies, and craniosynostosis are associated.[8] High-arched palate and delayed loss of primary teeth are seen. None of the bony abnormality was present in our patient. Although complicated cataract and retinal detachment have been reported previously,[9] we could not find any case report presenting with bilateral ring cataracts.

HIES has been related with a heightened risk for autoimmune diseases such as systemic lupus erythematosus and dermatomyositis.[10] Our patient had autoimmune hypothyroidism, an association never described in literature before. Mental retardation of the patient and sinus bradycardia are likely to be the manifestations of hypothyroidism.

Our case is unique because it is the first report of HIES associated with autoimmune hypothyroidism, bilateral ring cataracts, and presence of psoriasiform skin lesions.

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

There are no conflicts of interest.

  References Top

Borges WG, Hensley T, Carey JC, Petrak BA, Hill HR. The face of Job. J Pediatr 1998;133:303-5.  Back to cited text no. 1
Muhammed K. Hyper IgE syndrome: Report of two cases with moderate elevation of IgE. Indian J Dermatol Venereol Leprol 2005;71:112-4.  Back to cited text no. 2
[PUBMED]  [Full text]  
Renner ED, Puck JM, Holland SM, Schmitt M, Weiss M, Frosch M, et al. Autosomal recessive hyperimmunoglobulin E syndrome: A distinct disease entity. J Pediatr 2004;144:93-9.  Back to cited text no. 3
Grimbacher B, Holland SM, Gallin JI, Greenberg F, Hill SC, Malech HL, et al. Hyper-IgE syndrome with recurrent infections – An autosomal dominant multisystem disorder. N Engl J Med 1999;340:692-702.  Back to cited text no. 4
Li XL, Geng SM, Lei XB, Xiao SX, Liu Y, Peng ZH. Unusual psoriasiform lesions in a patient with hyper-IgE syndrome. J Eur Acad Dermatol Venereol 2007;21:424-6.  Back to cited text no. 5
Pherwani AV, Madnani NA. Hyperimmunoglobulin E syndrome. Indian Pediatr 2001;38:1029-34.  Back to cited text no. 6
Buckley RH. The hyper-IgE syndrome. Clin Rev Allergy Immunol 2001;20:139-54.  Back to cited text no. 7
Höger PH, Boltshauser E, Hitzig WH. Craniosynostosis in hyper-IgE-syndrome. Eur J Pediatr 1985;144:414-7.  Back to cited text no. 8
Arora V, Kim UR, Khazei HM, Kusagur S. Ophthalmic complications including retinal detachment in hyperimmunoglobulinemia E (Job's) syndrome: Case report and review of literature. Indian J Ophthalmol 2009;57:385-6.  Back to cited text no. 9
[PUBMED]  [Full text]  
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. 10


  [Figure 1], [Figure 2], [Figure 3]


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