Familial hidradenitis suppurativa: evidence in favour of single gene transmission.
(17/22)
The three English families in this report have a total of 21 members (16 females and five males) suffering from chronic hidradenitis suppurativa. In family A the condition is associated with acne conglobata and there is vertical transmission of the disorder through three generations. In the others there is no associated cystic acne, but all those affected had a history of acne vulgaris with comedone formation, and the condition has been confirmed in two generations. It is likely that a male in an earlier generation in family B suffered from the disease and affected sibs in family C were born to different fathers. The familial aggregation and number of affected subjects suggests a single gene disorder and the pattern of transmission is consistent with autosomal dominant inheritance. Males and females are affected in successive generations and there is the anticipated variation in clinical severity in those suffering from the condition. (+info)
Necrotizing fasciitis: the Howard University Hospital experience.
(18/22)
All surgical cases from 1965 to 1980 and autopsy cases from 1974 to 1980 diagnosed at Howard University Hospital as necrotizing fasciitis (NF) were reviewed. Eight patient fulfilled the criteria for NF, which included (1) fascial necrosis, (2) spreading cellulitis with undermining of fascial planes, and (3) systemic toxicity as evidenced by altered mental state and hyperthermia. Bacteroides fragilis was commonly found in our most recent cases. Poor prognostic signs included (1) documented bacteremia, (2) preoperative hypotension (systolic blood pressure lower than 80 mmHg), and (3) hypocalcemia (serum calcium less than 7.0 mg/dL). Therapy consisted of wide debridement with systemic antibiotics and delayed skin grafting when needed. (+info)
Hydradenitis suppurativa.
(19/22)
The surgical treatment of a group of 24 patients with hydradenitis suppurativa is described and the clinical features, aetiological factors and other methods of treatment are reviewed. An abnormally high incidence of atopy is noted within the group. (+info)
Hidradenitis suppurativa: a closer look.
(20/22)
The following is a review of the literature concerning hidradenitis suppurativa with emphasis on aspects of this disease which suggest that it may be a result of altered host-defense mechanisms.Deep fistula formation, anemia, and the development of carcinoma are complications seen only in disease affecting the perianal area. The term perianal is used loosely to describe the buttock, perineum, pubic, and genital areas.A variety of treatment regimens has been used with limited success. Surgery has evolved as the treatment of choice for advanced and chronic disease. (+info)
Hidradenitis suppurativa of the perineum, scrotum, and gluteal area: presentation, complications, and treatment.
(21/22)
Hidradenitis suppurativa is an infrequent inflammatory process that begins as an infection in the apocrine sweat glands. From an initial focus, the infection spreads to involve other tissues of the skin and adjacent structures. When inadequately treated or neglected, the disease becomes chronic with suppuration, sinus formation, invasion of adjacent organs, and occasional malignant degeneration. Social and occupational dislocations are the rule. The peak incidence of the disease is in the third and fourth decades. Blacks and women are most often affected.Our clinical experience with hidradenitis of the scrotum, perineum, and gluteal area is presented. One patient had an associated adenocarcinoma and another had osteomyelitis. All but one had neglected the disease. Emphasis is placed on early and appropriately wide excisional therapy for the disease in all its manifestations. Incision and drainage and antibiotics are of limited value and are best used as preliminaries to definitive excisional therapy. (+info)
Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications.
(22/22)
Indirect molecular diagnosis of X linked hypohidrotic ectodermal dysplasia (XLHED), a congenital disorder of hair, teeth, and eccrine sweat glands, has been possible by linkage analysis. Direct mutation detection would enable carrier detection in female relatives of sporadic cases, as well as help distinguish XLHED from the rarer, clinically indistinguishable, autosomal recessive disorder ARHED. Recently, a candidate gene for XLHED has been identified. Genomic DNA from 162 affected males and 21 females, who were either obligate carriers or had manifestations of the disorder, were screened by SSCP analysis. A subset of the patients had been previously screened for large genomic deletions and had limited screening of a single exon by SSCP analysis. The two known exons were amplified using flanking primers. Approximately 7% of patients, all males, had putative mutations identified within exon 1, but no variants were found within exon 2. Ten different putative mutations and four probable polymorphisms were identified. Both of the known exons were sequenced in 10 patients who had no detectable SSCP changes, but no additional mutations were found. No correlation between phenotype and genotype was evident between either affected subjects or subjects with or without detectable mutations. The results of the study indicate that only a small minority of affected males can be diagnosed by direct mutation analysis, and that the remainder of the patients are likely to have mutations in as yet unidentified exons of the EDA gene. Linkage analysis, in informative situations, therefore remains the only practical diagnostic option available. (+info)