Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0017168 (gastroesophageal reflux disease)
 11,783 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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, gastroesophageal 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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PMID:SAPHO osteomyelitis and sarcoid dermatitis in a patient with DiGeorge syndrome. 1649 84

An interesting case of pyogenic vertebral osteomyelitis with multiple epidural abscesses caused by non-pigmented Prevotella oralis is reported. The patient was a 68-year-old female who presented to the emergency room (ER) with severe pain and tenderness in her lower back with fever. She had recently undergone esophagogastroduodensoscopy (EGD) for complaints of esophageal reflux, which showed submucosal cyst in the esophagus. Magnetic resonance imaging (MRI) of the thoracic spine revealed multiple spinal epidural abscesses with signal enhancement at the level of T6 and T7, suggestive of vertebral osteomyelitis. Two blood cultures drawn one hour apart grew Prevotella oralis. The body fluid aspirated from the abscesses was also positive for the anaerobic commensal P. oralis. Necrosis associated with the submucosal cyst was implicated as the cause of sepsis and osteomyelitis due to this organism.
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PMID:Vertebral osteomyelitis and epidural abscesses caused by Prevotella oralis: a case report. 2314 94