[Subcutaneous tumoral mass on the back].
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Biomedical subjects
Publications and source records attributed to J Santos-Juanes.
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Q fever is an uncommon zoonotic rickettsial disease with no exanthem or specific cutaneous lesions. Only nonspecific cutaneous involvement has been reported to date. A 69-year-old Spanish woman with chronic myelogenous leukaemia developed fever and two subcutaneous nodules. The patient complained of extreme pain. Biopsy revealed a granulomatous lobular panniculitis with a characteristic 'fibrin ring' or 'doughnut' appearance: fibrin and inflammatory cells arranged around a central clear space. Changes of membranous lipodystrophy were also found. Q fever serological studies were positive. Our patient had panniculitis with singular histopathological features. These histopathological changes have been described in liver and bone marrow of patients with Q fever. To the best of our knowledge, this cutaneous involvement due to Q fever has not previously been described in the literature.
Necrobiosis lipoidica (NL) is a disease of collagen. Squamous cell carcinomas developing in areas of chronic ulceration and scarring have been well documented in a variety of skin diseases but rarely in areas of necrobiosis lipoidica. The case history of a 76-year-old female is presented, whose squamous cell carcinoma appeared 30 years after the diagnosis of necrobiosis lipoidica. The clinical and histopathological picture is described, stressing the importance of the unusual association of the two pathologies in the prognostic.
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OBJECTIVE: To map the locus for susceptibility to psoriasis in patients with psoriatic arthritis. METHODS: Seventy-four patients with psoriatic arthritis and 95 patients with psoriasis vulgaris were included in this study. Polymorphic genes and microsatellite markers centromeric (C1_2_5) and telomeric (C1_4_4, OTF3, HCR and the corneodesmosin gene) to HLA-C were studied in an association analysis. Typing was also performed on a control population of 104 matched donors. RESULTS: The allele Cw*0602 was associated both with psoriasis [49 vs 21%, Pc<0.0003; odds ratio (OR)=3.6, aetiological factor (AF)=0.72] and with psoriatic arthritis (62 vs 21%, Pc<0.000001; OR=6.1, AF=0.83). In psoriatic patients a susceptibility region telomeric to HLA-C that includes C1_4_4 (56 vs 22%, Pc<0.0002; OR=4.39, AF=0.77), OTF3 (85 vs 60%, Pc<0.0002; OR=3.7, AF=0.73) and HCR (63 vs 26%, Pc<0.00001; OR=3.8, AF=0.74) was observed. In psoriatic arthritis patients the susceptibility region was delimited by HLA-C and C1_4_4 (384 allele, 56 vs 22%, Pc<0.0002; OR=4.37, AF=0.77). CONCLUSIONS: Comparing the susceptibility regions associated with the two diseases, an overlapping interval of 100 kb between HLA-C and OTF3, which might contain the psoriasis gene, can be defined.
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An increase has been recently noted in the incidence of life-threatening group A beta-hemolytic streptococcal (GABHS) infections in children recovering from varicella. We report our experience with a patient who required pediatric intensive care unit admission because of a serious GABHS infection 1 week after the onset of varicella. Emergency physicians must look for this complication in patients with varicella remaining abnormally febrile and presenting unusual manifestations.
Psoriasis has been strongly associated to HLA-Cw6, but it remains unclear whether Cw6 itself or a closely linked gene is associated with the disease. The aim of this study was to clarify whether the HLA-C itself determines disease susceptibility or whether it acts only as a marker for the susceptibility allele. We examined a sample of 95 type I psoriasis patients and 104 Spanish matched controls to investigate whether HLA-Cw*0602 or other closely related class I loci, such as HLA-B and MICA (which are centromeric to HLA-C), or corneodesmosin gene and octamer transcription factor-3 genes (which are telomeric to HLA-C), might play a part in disease development. DNA samples were genotyped by polymerase chain reaction/sequence-specific primers (HLA-C), polymerase chain reaction/sequence-specific primers (HLA-B), radioactive polymerase chain reaction (MICA-TM polymorphism in the transmembrane region), and polymerase chain reaction/restriction fragment length polymorphism (protein S and octamer transcription factor-3). Our results show a significant increase of Cw*0602 in psoriasis patients (odds ratio = 3.64; pc < 0.0006). A significant association between the beta allele of octamer transcription factor-3 (HindIII) and psoriasis was also detected (odds ratio = 3.76; pc < 0.0003). The allele octamer transcription factor-3B (etiologic fraction = 0.62) was found to be more strongly associated to psoriasis vulgaris than Cw*0602 (etiologic fraction = 0.35) and the increase of octamer transcription factor-3 B allele is independent of the linkage disequilibrium with Cw*0602 as this was also found in Cw*0602 negative patients (odds ratio = 3.63; pc < 0.015, etiologic fraction = 0.55). We did not detect an association between the corneodesmosin gene and psoriasis. This fact suggests that the psoriasis susceptibility gene is located within a critical region of 147 kb, telomeric to HLA-C and centromeric to the corneodesmosin gene, and the association of Cw6 to psoriasis may be secondary to linkage disequilibrium.
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