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SAPHO osteomyelitis and sarcoid dermatitis in a patient with DiGeorge syndrome

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Abstract

We report the development and spontaneous resolution of annular erythematous skin lesions consistent with sarcoid dermatitis in a child with DiGeorge syndrome (DGS) carrying the 22q11.2 microdeletion. The skin lesion developed after she was treated with isoniazid (INH) following exposure to active tuberculosis (TB). After resolution of the skin lesions, this child developed sterile hyperplastic osteomyelitis consistent with SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) osteomyelitis in her right mandible triggered by an odontogenic infection. This child had congenital heart disease, dysmorphic facies, recurrent sinopulmonary infection, gastroesophgeal reflux disease, scoliosis, reactive periostitis, and developmental delay. She had a low CD4 and CD8 T cell count with a normal 4/8 ratio, but normal cell proliferation and T cell cytokine production in response to mitogens. When she was presented with sterile osteomyelitis of right mandible, she revealed polyclonal hypergammaglobulinemia with elevated erythrocyte sedimentation rate (ESR)/angiotensin converting enzyme (ACE) levels, but negative CRP. Autoimmune and sarcoidosis workup was negative. Inflammatory parameters gradually normalized following resolution of odontogenic infection and with the use of non-steroidal anti-inflammatory drugs (NSAIDs). The broad clinical spectrum of DGS is further expanded with the development of autoimmune and inflammatory complications later in life. This case suggests that patients with the DGS can present with unusual sterile inflammatory lesions triggered by environmental factors, further broadening the clinical spectrum of this syndrome.

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Abbreviations

ACE:

Agiotensin converting enzyme

CRP:

C reactive protein

DGS:

DiGeorge syndrome

ESR:

Erythrocyte sedimentation rate

NSAIDS:

Nonsteroidal anti-inflammatory drugs

PPD:

Purified protein derivative

SAPHO:

(Synovitis, acne, pustulosis, hyperostosis, and osteitis)

TB:

Tuberculosis

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Author information

Authors and Affiliations

  1. Division of Pulmonary, Allergy/Immunology, and Infectious Diseases, Department of Pediatrics, University of Medicine and Dentistry of New Jersey (UMDNJ)-New Jersey Medical School, 185 South Orange Ave., F570A, MSB, Newark, NJ, 07101-1709, USA

    Harumi Jyonouchi & Helen Aguila

  2. Division of Allergy/Immunology, Department of Medicine, UMDNJ-New Jersey Medical School, Newark, New Jersey, USA

    Kenneth W. Lien

  3. Department of Oral and Maxillofacial Surgery, UMDNJ-New Jersey Medical School, Newark, New Jersey, USA

    Gaetano G. Spinnato

  4. Department of Orthopedics, UMDNJ-New Jersey Medical school, Newark, New Jersey, USA

    Sanjeev Sabharwal

  5. Center for Human and Molecular Genetics, Department of Pediatrics, UMDNJ-New Jersey Dental School, Newark, New Jersey, USA

    Beth A. Pletcher

Authors
  1. Harumi Jyonouchi
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  2. Kenneth W. Lien
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  3. Helen Aguila
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  4. Gaetano G. Spinnato
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  5. Sanjeev Sabharwal
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  6. Beth A. Pletcher
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Correspondence to Harumi Jyonouchi.

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Jyonouchi, H., Lien, K.W., Aguila, H. et al. SAPHO osteomyelitis and sarcoid dermatitis in a patient with DiGeorge syndrome. Eur J Pediatr 165, 370–373 (2006). https://doi.org/10.1007/s00431-006-0082-7

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  • DOI: https://doi.org/10.1007/s00431-006-0082-7

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