Epidemiological, Clinical and Therapeutic Profile of Genodermatoses in Mali

Abstract

Long considered as orphan diseases because of their poorly estimated frequency. Genodermatoses are more and more encountered in the world. They have been reported in all ethnic groups, including African blacks. In Mali, ethnic diversity and the frequency of consanguineous marriage justify the interest of this study. Objectives: To determine the prevalence of genodermatoses in Mali, to describe their clinical and therapeutic aspects. Patients and methods: It was a descriptive cross-sectional study of all cases of genodermatoses diagnosed and followed in the dermatology department of the Centre National d’Appui à la lutte contre la Maladie de Bamako National support center for disease control (CNAM) of Bamako, regardless of their age and sex, during the period January 2015 to December 2018. Outcomes: A total of 153 cases followed for Genodermatoses out of 4372 consulted were included in our study, ie an overall prevalence of 3.5%. Albinism accounted for 48.36% (74 patients), Congenital Ichthyosis 14.37% (22 patients), Hereditary Epidermolysis Bullosa 10.45 (16 patients), Neurofibromatosis 11.76% (18 patients), Xeroderma Pigmentosum 9.16% (14 patients), Incontinentia Pigmenti 5.88% (9 patients). Females accounted for 54.12% (83 patients), males accounted for 44.88% (70 patients) and children 41.83%. Clinically, hyperpigmented macules, actinic keratoses, and photosensitivity were observed in Albino and Xeroderma Pigmatosum. Hereditary Ichthyosis was characterized by cutaneous dryness associated with squamous lesions in 95% of cases. All evolutionary stages of L’Incontinentia Pigmenti were observed in our study. Therapeutically, all our patients have received adequate care with regular follow-up. Hereditary epidermolysis bullosa received local treatment with twice-daily baths with dermatological or antiseptic soaps, the use of topical antibiotics on erosive lesions. Oral antibiotics were reserved for cases of proven superinfection. Pigmented spots and actinic keratoses were treated by the application of liquid nitrogen. Sunscreen creams were routinely used in all albinos and Xeroderma Pigmentosumen in addition to advice on the importance of sunscreening. The 6 cases of carcinoma were treated surgically. Conclusion: genodermatoses have the same clinical manifestations as those observed in Western countries, the prevalence seems to be different in sub-Saharan Africa favored by inbred marriage.