Novel filaggrin mutation but no other loss-of-function variants found in Ethiopian patients with atopic dermatitis.

BACKGROUND: Filaggrin is a key protein involved in maintaining skin barrier function and hydration. Mutations in the filaggrin gene (FLG) cause ichthyosis vulgaris (IV) and are a major predisposing factor for atopic dermatitis (AD) in individuals of European and Asian descent. It has been proposed that FLG mutations are population specific and a difference in the spectra of mutations between different ancestral groups has been described. However, it is unknown whether FLG mutations in the African population are a causative genetic factor for IV and predispose to AD, or whether other mechanisms are more prominent. OBJECTIVES: The present aim was to investigate the role of FLG mutations as predisposing factors for IV or AD among individuals from Ethiopia. METHODS: A case series of Ethiopian patients with AD (n = 103) and IV (n = 7) together with controls (n = 103; subjects without past or present history of AD, dry skin or atopic manifestations) was collected at the outpatient dermatology clinics at ALERT Dermatology Hospital, Tikur Anbessa Hospital and Gondar University Hospital, Ethiopia. AD was diagnosed by a dermatologist using the U.K. Working Party's diagnostic criteria. The IV diagnosis was based on clinical examination and genetic testing of the steroid sulphatase gene to exclude X-linked recessive ichthyosis. Patients were studied with direct sequencing (n = 40) and/or allelic discrimination (n = 110). Immunohistochemical analysis was performed for filaggrin expression in the skin of patients (n = 7) and controls (n = 2). RESULTS: The Ethiopian patients and controls were genotyped for the four previously described common European FLG null mutations (R501X, 2282del4, S3247X, R2447X) and no carriers were found. In one patient with AD a novel heterozygous 2-bp deletion, 632del2, leading to a premature stop codon was revealed by direct sequencing. No additional carrier of this deletion or other mutations was found. In addition, no difference in filaggrin expression was detected in AD or IV skin compared with healthy control skin. CONCLUSIONS: Our results indicate that FLG loss-of-function-variants are less common in patients with IV and AD in the Ethiopian population, suggesting that other factors may be of importance in the pathogenesis in this ethnic group.

Pattern of skin diseases at the University teaching hospital, Addis Ababa, Ethiopia.

BACKGROUND AND OBJECTIVE: Skin diseases are among the leading causes of hospital visits in Ethiopia. An analysis was performed to describe the pattern of skin diseases at a teaching hospital in Addis Ababa, Ethiopia. PATIENTS AND METHODS: All consecutive new patients seen at the dermatologic referral clinic of Black Lion Teaching Hospital (BLH) from June 1995 to July 1997 were included in this prospective analysis. The clinical examinations were performed by the author, so that uniformity of diagnosis and classification is assured. RESULTS: A total of 1505 patients were assessed; 1093 (72. 6%) were in the age group 21-40 years, and the female to male ratio was 1.2 to 1. The most common skin diseases were allergic skin diseases (25.5%), infections (25.4%), the photodermatoses (22.9%), followed by papulosquamous diseases (11.4%) and pruritus of unknown origin (3.3%). Skin manifestations of collagen diseases were less common findings (0.7%). CONCLUSIONS: The pattern of skin diseases observed in this analysis shows that allergic and infectious causes account for three-quarters of skin problems. Emphasis should be given to this group of common skin diseases at all levels of health care so that proper diagnosis, treatment, and referral can be practiced.

Pattern of skin disease at the Ethio-Swedish pediatric hospital, Addis Ababa, Ethiopia.

Although skin diseases are common in children, only a very few prospective studies are available, in the literature, mainly from developed countries. This work reports the pattern of skin diseases in a tertiary referral hospital in Addis Ababa, Ethiopia, from June 1995 to July 1997. A total of 1000 consecutive new pediatric patients, ages 0-12 years, were studied. The male:female ratio was 1:1. Allergic skin diseases were most frequently found (55%), followed by infections (33%) and photodermatosis (8%). Of the allergic skin diseases, atopic dermatitis was the most prevalent (47%), followed by seborrheic dermatitis (17.4%).

Immunopathologic findings in systemic sclerosis patients: clinical and immunopathologic relationships.

Direct immunofluorescence (DIF) of the skin biopsy specimens was performed in 62 patients with systemic scleroderma: 26 cases of acrosclerosis (group 1), 26 cases of diffuse scleroderma (group 2) and ten cases of transitional form acrosclerosis-diffuse scleroderma (group 3). If epidermal nuclear fluorescence and lupus band test (LBT) were considered, the results were positive in 15.3% in group 1, 42.3% in group 2, and 10% in group 3. LBT was positive in 13.5% of the cases in groups 1 and 2 and negative in group 3. The immunoglobulin deposits at the dermoepidermal consisted mainly of IgM or a combination of IgG and IgM. There was no correlation between the LBT and antinuclear antibodies as detected by indirect immunofluorescence (IIF) or double immunodiffusion (DID).