Biomedical subjects
Publications and source records attributed to S Burge.
Darier's disease is an inherited disorder with well-recognized patterns of presentation. Lesions commonly affect the trunk and flexures. The diagnosis is based on the typical clinical appearance and histology showing acantholytic dyskeratosis. We report two unusual cases with prominent nodular, comedonal lesions on the face and scalp.
The characteristic expression of keratins by keratinocytes is well documented. A typical 'hyperproliferative' profile of epidermal keratin expression occurs in psoriasis, wound healing and warts. This study analyses keratin expression in cutaneous lichen planus to determine abnormalities of differentiation occurring in this inflammatory disorder. Using a panel of monoclonal antibodies 28 samples (20 patients) were studied. The results showed that squamous differentiation was unaffected, with keratins K1 and K10 being expressed normally for the site sampled. The main abnormalities included extension of reactivity of the basal cell marker, LH8, into the suprabasal compartment. Keratin K17, usually restricted to adnexal structures, was variably expressed in the basal and suprabasal layers of the interfollicular epithelium of affected epidermis. Keratins K6 and K16, found suprabasally in hyperproliferative states, were detected both basally and suprabasally in all diseased samples. The keratin profile in lichen planus is analogous to the wound healing response. Suprabasal keratin K17 is found in psoriasis, wound healing and viral warts so the changes in keratin K17 may reflect hyperproliferative changes. It is likely that the changes in epidermal keratin expression are due to up-regulation of specific keratin genes by the production of cytokines and inflammatory mediators from the lymphocytic infiltrate typical of lichen planus.
Darier's disease is a dominantly inherited skin disorder in which there is abnormal adhesion between keratinocytes. We and others have recently mapped the disease gene to chromosome 12q23-q 24.1. In the present study we have established that the disease gene lies between the loci D12S78 and D12S79 which are 12cM apart. We have also obtained direct evidence that the disease is unlikely to result from a mutation in one of the members of the keratin gene cluster on chromosome 12q.
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Darier's disease is a rare autosomal dominantly inherited keratosis. This is an account of one family in which there is co-occurrence of major affective disorder and Darier's disease in five members and absence of both disorders in five members. The pedigree is consistent with genetic linkage between the Darier gene and a major autosomal dominant susceptibility locus for major affective disorder. When the Darier's disease gene has been mapped, its chromosomal location will be an interesting candidate locus for linkage studies of major affective disorder.
Darier's disease is a rare autosomal dominant skin disorder in which there is abnormal adhesion between keratinocytes. It appears to be associated with an increased prevalence of neuropsychiatric disorders including mental retardation and epilepsy. In addition we have previously reported a family in which major affective disorder cosegregates with Darier's disease. In the present study we have localized the gene for Darier's disease to chromosome 12q23-q24.1 by linkage analysis in five British pedigrees. We obtained a maximum two point lod score of 4.29 with marker D12S84 at zero recombination fraction. All five families showed evidence of linkage between the disease gene and markers in this region. Subsequent identification of the Darier's disease gene will provide insights into normal mechanisms of cell adhesion and may be of importance in the genetic investigation of neuropsychiatric disorders as well as elucidating the pathogenesis of Darier's disease itself.
Munro and colleagues (Ann Génét, 1992, 35, 157-160) found small positive lod scores for linkage between the genes for Darier's disease and the Duffy blood locus in two large British families, with a maximum lod score in one family of 0.807 at theta = 0.0. The authors have examined five independent British pedigrees multiply affected by Darier's disease using highly polymorphic microsatellite DNA markers tightly linked to the Duffy locus. They were able to exclude close linkage between the Darier gene and CRP for theta < or = 0.16 and between the Darier gene and D1S104 for theta < or = 0.12. We conclude that the gene for Darier's disease does not lie close to the Duffy locus.
A 59-year-old man was found to have typical Hailey-Hailey disease of the back, neck and axillae. In addition, he had fine white scaling in the scalp and postauricular areas. Despite the clinical appearance of seborrhoeic dermatitis, a biopsy of his scalp showed prominent suprabasal epidermal separation with acantholysis. We propose that in a genetically predisposed individual, Hailey-Hailey disease can assume atypical and non-specific appearances.
This research explores the relationships between each of four "domains" of family life and the health of husbands and wives in a community-based sample of 225 families. In this article we report the association between Family Structure/Organization and adult Health. This family domain refers to the architecture of the family or the structural frame of roles and rules within which the family operates. Interrelationships among 13 self-reported, family Structure/Organization scales are described, using principle components analysis (PCA) and multidimensional scaling analysis (MDS). Derived, joint-spouse or couple Structure/Organization variables also were created using inter-battery factor analysis. The PCA yielded a poor solution, whereas the MDS yielded a good two-dimensional solution, which roughly displayed the scales in a circular pattern for both husbands and wives. The analyses indicated that no single dimension or set of separate subdimensions adequately described the Structure/Organization variables. All 13 scales than were associated with a battery of 14 adult health scales for husbands and wives separately, using canonical correlation. Different aspects of family Structure/Organization were correlated with health for husbands and wives: Organized Cohesiveness, Sex Role Traditionalism, Role Flexibility and Shared Roles for husbands; and Organized Cohesiveness and Differentiated Sharing for wives. Different patterns of health scores also emerged by gender, with behavioral indicators, such as Smoking and Drinking, more salient for husbands, and mood indicators, such as Anxiety and Depression, more salient for wives.
BACKGROUND: Obstructive airways disease in aluminium potroom workers has been recognised for over 50 years. There is still controversy about whether this is true occupational asthma. METHODS: A cross sectional survey of 379 potroom workers identified 26 subjects with symptoms suggestive of occupational asthma. Of these 26, 14 were considered by the plant physician to have occupational asthma and had a measurable PC20 methacholine (provocative concentration causing a 20% fall in FEV1). These 14 were further investigated by serial measurements of peak flow at home and work, symptom diaries, and measurements of methacholine reactivity before and after a three week holiday. RESULTS: There was a good correlation between daily symptom scores and minimum peak flow measurements; these showed changes characteristic of occupational asthma in 10 workers, with increased diurnal variation in peak flow and consistent deterioration in relation to work exposure. One further record showed probable occupational asthma and two showed consistent small changes in peak flow related to work exposure more in keeping with an irritant effect. Only one record was inadequate. Methacholine reactivity on a work day was within the normal range in nine of 13 subjects. A doubling of PC20 methacholine occurred in five of nine subjects with occupational asthma in whom repeated estimations were possible. CONCLUSIONS: This study confirms the existence of aluminium potroom asthma. The lack of correlation with measurements of non-specific responsiveness suggests that the primary mechanism is one of hypersensitivity, perhaps enhanced by the bronchial irritants also present in the potroom.
Eighty-six patients with chronic cutaneous lupus erythematosus were examined. Twelve of these also suffered from systemic lupus erythematosus. The mean duration of the disease was 15.1 years. Fifty-seven percent of patients (49/86) had scarring of some kind producing destruction and deformity; 47% (41/86) had scarring of glabrous surfaces and 35% (30/86) had scarring alopecia; 35% (30/86) were also suffering from pigmentary disturbance. The details and treatment of these and other non-scarring sequelae are discussed.
We treated seven patients with discoid lupus erythematosus (DLE) with Vitamin E in an oral dose of 400 mg three times per day for 12 weeks. All other systemic and topical treatments were discontinued 1 month before initiation of the trial. The drug was then stopped and follow-up continued for at least another 4 weeks. No patient showed clearing of lesions. The trial was conducted during summer, when DLE is likely to be most active. There was no deterioration in any patient. No side effects were noted.
We describe the clinical and immunopathological findings in a patient with a bullous eruption and systemic lupus erythematosus (SLE). The bullous eruption preceded a dramatic flare of the SLE with a rise in anticardiolipin antibodies and life-threatening cardiac vasculitis. The clinical and histological findings were similar to those described in the classic bullous eruption of SLE but, unlike previous cases, IgG anti-basement-membrane-zone (anti-BMZ) antibodies were detected on the epidermal as well as the dermal side of the split in chemically separated human skin. We screened the sera of another eight patients with SLE and 10 patients with chronic cutaneous lupus erythematosus (CCLE) without evidence of systemic involvement for the presence of anti-BMZ antibodies and demonstrated that these were present in a low titre in a further two SLE patients neither of whom had a history of blistering. Once more there was binding to both sides of the split. We conclude that although there may be low titres of antibodies to several BMZ antigens in patients with SLE, these are not always associated with blistering and their role in the initiation or perpetuation of cutaneous disease is uncertain.
Melanocytic naevi (MN) are recognised risk factors for malignant melanoma but the epidemiology of MN is poorly understood. Some MN are present at birth and the study of congenital lesions is an important first step toward understanding the development of MN in early life. In this study, the prevalence and characteristics of congenital pigmented lesions were documented in 1012 White caucasian newborn babies at a maternity hospital in Oxford. Only 12 babies (1.2%) were found to have pigmented skin marks and each of these had only one lesion and no other abnormalities. MN were identified with certainty in only five babies (0.5% of the population; 95% CI, 0.06%-0.93%) thus confirming the relatively low prevalence of this lesion. Four of the MN were noted to be 'small' (less than 15 mm diameter) and all five were less than or equal to 20 mm in diameter. In other respects, the MN displayed a diversity of features. Of the other lesions there were two Mongolian blue spots, one melanocytic pustule, one 'probable' MN and three unusual skin marks where the diagnosis was uncertain but considered unlikely to be MN. During the course of the study, examinations were also carried out incidentally on 39 non-White babies. Twenty-two of these were noted to have Mongolian spots (57%) and three had other pigmented lesions (8%).
A task force of five clinical nurse specialists (CNSs) developed a data collection instrument to document CNS weekly work activities in 30-minute segments. This CNS group collected data for 2-week periods quarterly from June 1984 to May 1987. These data showed that: (1) greater than 50% of work time was allocated to clinical practice and consultation; (2) the proportion of time spent on activities in each role component varied with the number of years of experience in the CNS role; and (3) variations in amount of time spent in role categories were evident among practice specialties. The project demonstrated that it is possible to document CNS practice conveniently. The project has also enhanced the professional development of the CNS group and has set the stage for implementing peer review.