Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The etiology and pathogenesis of acne arthritis and the arthritis of hidradenitis suppurativa remain unknown. Some patients have an asymmetrical pauciarticular arthritis compatible with the 'reactive' peripheral and central forms of Reiter's syndrome, whereas others have a symmetrical polyarthritis/polyarthralgias syndrome. The cutaneous disease is clinically manifest as acne conglobata or hidradenitis of axilla or groin. We determined human leukocyte antigens (HLA), levels of immunoglobulins, C3, C4 and circulating immune complexes from six patients with acne arthritis. Four of six patients had HLA antigens of B7 Creg group (B7, BW22, B27, BW40, BW42) and all six possessed DRW4. Isolated elevations of immunoglobulins, C3 and C4 were observed. Immune complexes were elevated uniformly. These observations suggest that immunogenetic mechanisms may play a role in the systemic manifestations of these skin diseases.
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PMID:Immunological studies of the arthritis of acne conglobata and hidradenitis suppurativa. 624 61

While a germline activating mutation of the luteinizing hormone receptor (LHR) gene is known to cause autonomous production of testosterone from testicular Leydig cells in male-limited precocious puberty, only a few studies have addressed the role of somatic LHR mutation in testicular pathology. The authors report a case of a 6-year-old boy who developed secondary sex characteristics including facial acne, enlarging genitalia, and aggressive behavior, for which serial biochemical evaluation confirmed the status of peripheral precocious puberty. Examination revealed asymmetrical testicular volume, following which a left testicular tumor was detected through ultrasonography. A left orchiectomy was performed, and histopathology revealed a well-circumscribed Leydig cell tumor Molecular study of the exon 11 of the LHR gene revealed a missense mutation at the nucleotide position 1,732, leading to a substitution of histidine for aspartic acid at codon 578. Interestingly, the substitution was consistent with all previously reported LHR alteration in pediatric Leydig cell adenoma, but which had never before been reported in male-limited precocious puberty, suggesting that the mutation is a molecular signature of the adenoma.
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PMID:Peripheral precocious puberty in a male caused by Leydig cell adenoma harboring a somatic mutation of the LHR gene: report of a case. 2087 84