A Rare Case of Job Syndrome With Autism: Complicated With Hidradenitis Suppurativa and Chronic Deep Vein Thrombosis

Abstract

Job syndrome or hyper-immunoglobulin E syndrome is one of the rare immunologic diseases with only about 300 cases described in the literature until now. Given their low prevalence, our understanding of both autosomal dominant and recessive Job syndromes is still evolving. No specific treatment options are available but early diagnosis may help in treating cases prophylactically with antibiotics and wound care to reduce the patient's burden. We recently encountered a patient diagnosed with Job syndrome with autism who presented with an abscess in the right axillary region. We report this case for its rarity and unique association with developmental neurologic disorder. It is crucial to review this rare syndrome to circumvent any diagnostic delay. Following the disease course and taking all the associations into account is also vital for the clinician's understanding as well as implementing the treatment plan.

Hidradenitis Suppurativa: An Interdisciplinary Problem in Dermatology, Gynecology, and Surgery—Pathogenesis, Comorbidities, and Current Treatments

“…Most authors agree that HS is a debilitating disorder characterized by chronic inflammation in intertriginous areas with an often-unsatisfactory response to treatment [ 59 ]. Based on our observations, a phenomenon that worsens the prognosis further is the late diagnosis, which was confirmed by the work of Howdhury et al [ 60 ], who pointed out the small number of cases described in the literature. Additionally, the research team of Howdhury found it necessary to establish a proper treatment plan for the disease [ 60 ].…”

“…Based on our observations, a phenomenon that worsens the prognosis further is the late diagnosis, which was confirmed by the work of Howdhury et al [ 60 ], who pointed out the small number of cases described in the literature. Additionally, the research team of Howdhury found it necessary to establish a proper treatment plan for the disease [ 60 ]. According to other studies, it is probably even more important to attempt to understand the pathomechanisms of the disease, which would make healthcare providers and patients more aware of HS-associated risks and allow for the introduction of an appropriate treatment scheme [ 59 , 60 ].…”

“…Additionally, the research team of Howdhury found it necessary to establish a proper treatment plan for the disease [ 60 ]. According to other studies, it is probably even more important to attempt to understand the pathomechanisms of the disease, which would make healthcare providers and patients more aware of HS-associated risks and allow for the introduction of an appropriate treatment scheme [ 59 , 60 ].…”