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An Unusual Presentation of Hip Pain in a Patient with Known Hyper-IgE Syndrome and Multiple Calcified Pelvic Apophyses

Overview
Specialty Orthopedics
Date 2019 Jan 29
PMID 30687673
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Abstract

Introduction: Hyper-IgE syndrome (HIES) is a relatively rare condition which, from childhood, renders patients susceptible to infection. Typically patients with HIES can develop various orthopaedic manifestations of this disease, namely scoliosis, pathological fractures, osteoporosis, and potentially septic arthritis.

Case Report: We present the case of WJ, a 44-year old patient with known HIES(since the age of 11) and a 7-week history of left hip pain. We discuss the clinical presentation and the curveballs which came our way when investigating this patient and how we overcame them.We also demonstrate a very interesting pelvic radiograph from this patient which shows multiple sites of calcified apophyses. Something which is first unexpected in such patients and second something not previously reported in the literature.

Conclusion: Several issues and conundrums can present themselves when dealing with patients known to have HIES. We demonstrate how we managed such a patient and maintained a high level of suspicion in such patient.

References
1.
Grimbacher B, Holland S, Gallin J, GREENBERG F, Hill S, Malech H . Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. N Engl J Med. 1999; 340(9):692-702. DOI: 10.1056/NEJM199903043400904. View

2.
Zhang Z, Welte T, Troiano N, Maher S, Fu X, Bothwell A . Osteoporosis with increased osteoclastogenesis in hematopoietic cell-specific STAT3-deficient mice. Biochem Biophys Res Commun. 2005; 328(3):800-7. DOI: 10.1016/j.bbrc.2005.01.019. View

3.
Holland S, DeLeo F, Elloumi H, Hsu A, Uzel G, Brodsky N . STAT3 mutations in the hyper-IgE syndrome. N Engl J Med. 2007; 357(16):1608-19. DOI: 10.1056/NEJMoa073687. View

4.
Renner E, Rylaarsdam S, Anover-Sombke S, Rack A, Reichenbach J, Carey J . Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. J Allergy Clin Immunol. 2008; 122(1):181-7. PMC: 4560358. DOI: 10.1016/j.jaci.2008.04.037. View

5.
Minegishi Y, Karasuyama H . Defects in Jak-STAT-mediated cytokine signals cause hyper-IgE syndrome: lessons from a primary immunodeficiency. Int Immunol. 2008; 21(2):105-12. DOI: 10.1093/intimm/dxn134. View