Dermatologic Manifestations of Job Syndrome Clinical Presentation

Updated: Mar 30, 2020
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Dirk M Elston, MD  more...
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Presentation

History

Although the diagnosis of Job syndrome (HIE syndrome, or hyper-IgE syndrome) is usually delayed until the patient reaches childhood or early adulthood, symptoms may begin in infancy.

Dermatologic features of Job syndrome

Nearly all patients have a history of moderate-to-severe, pruritic, eczematous skin eruptions in early life. The eruption does not have a seasonal variation and is present, to some degree, at all times.

Intermittent episodes of staphylococcal abscesses are common. These abscesses are often referred to as cold abscesses because they do not cause pain, heat, or redness.

Chronic mucocutaneous candidiasis and onychomycosis are common and usually caused by Candida species.

Systemic features of Job syndrome

Recurrent bronchitis is common, and a history of Staphylococcus aureus or Haemophilus influenzae pneumonia is usually associated with pneumatocele development. These pneumatoceles may become superinfected with Pseudomonas aeruginosa and Aspergillus fumigatus. Also see Pneumonia, Bacterial.

Other systemic infections may occur. These may include recurrent bacterial arthritis and a staphylococcal osteomyelitis at fracture sites. Patients also may have a history of otitis externa, chronic otitis media, sinusitis, multiple caries and gingivitis, or cervicofacial infection. [28]

Many patients report retained primary teeth, noneruption of permanent teeth, and double rows of teeth with both primary and permanent intermixed teeth. [29]

Multiple bone fractures are common and often due to unrecognized or minor trauma.

Scoliosis occurs in most teenaged patients.

Peripheral T-cell lymphoma has been described as a rare association with Job syndrome. [30]

Coronary artery aneurysms have been described in patients with HIE recurrent infection syndrome. [31]

Sarmento et al report an association with Dubowitz syndrome, HIE syndrome, and nasal polyposis. [32]

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Physical Examination

Dermatologic findings in Job syndrome

Moderate-to-severe, papular, pruritic eczematous lesions are typical; they may also be pustular and may become impetiginized. The areas of involvement predominately include the flexural areas, the area behind the ears, and the area around the hairline.

Cold staphylococcal abscesses that lack the typical signs of infection appear as fluctuant masses. These abscesses may be mistaken for cysts or benign tumors. They vary in size and can occur on any part of the body.

Furunculosis and cellulitis may also be present.

Chronic mucocutaneous candidiasis and onychomycosis are common.

A vesicular eruption similar to herpetic lesions may occur in newborns, with the more typical eczematous component developing over the next several months.

Disseminated molluscum contagiosum may also be evident. [33, 34]

Systemic findings in Job syndrome

Fever is rare. Recurrent productive cough is associated with bronchitis. Pneumonia with complicating pneumatocele development and empyema may be present, although these are less common in children who are receiving prophylactic antibiotics.

Recurrent bacterial arthritis and staphylococcal osteomyelitis may occur at fracture sites. Culture results in suspected osteomyelitis are often negative, but the findings on diagnostic images are usually consistent with this diagnosis. This osteomyelitis responds well to antibiotic treatment.

Frequent bone fractures are a feature of Job syndrome and occur in persons of all ages. The fractures usually occur in the long bones, ribs, and pelvic bones. They are often associated with an absence of pain.

Scoliosis is common. Approximately one third of patients have a spinal curvature greater than 20°.

Hyperextensible joints are also common.

A characteristic coarse facies is associated with Job syndrome. [35] The most striking features are a greater interalar width and a longer outer canthal distance. A prominent brow and supraorbital ridge with the impression of deep-set eyes is observed. These features tend to become more pronounced with age.

Oral manifestations include retained primary dentition, a high-arched palate, missing permanent teeth buds, fissured tongue, variations of the oral mucosa and gingiva, and recurrent oral candidiasis. [36, 37]

Rectal histoplasmosis has been described in a patient with Job syndrome. [38]

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Complications

Fournier gangrene due to infectious multiple atheromas of scrotal skin that progressed to the groin and thigh has been described in a patient with Job syndrome (HIE syndrome, or hyper-IgE syndrome). [39]

Job (hyperimmunoglobulinemia E) syndrome may predispose to the development of malignancies, especially lymphomas, mainly mature B-cell lymphomas, and classic Hodgkin lymphoma. [40]

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