Genodermatoses in Las Tunas Province, Cuba, 1989-2019.
INTRODUCTION Genodermatoses are a group of genetic diseases that affect the skin and adjoining tissues. They represent 15% of genetic diseases worldwide. Cuba established a National Program for the Diagnosis, Care and Prevention of Genetic Diseases and Congenital Abnormalities in 1980, which was imp...
| Publicado en: | MEDICC Review Vol. 23; no. 2; pp. 34 - 42 |
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| Autores principales: | , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Medical Education Cooperation with Cuba
Apr2021
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=150391616&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 150391616 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 15273172 903V jtl: MEDICC Review issn: 15273172 maglogo: N pubinfo: dt: Apr2021 vid: 23 iid: 2 pid: 54282 pub: Medical Education Cooperation with Cuba place: Oakland, California artinfo: ui: 150391616 150391616 150391616 10.37757/MR2021.V23.N2.10 150391616 ppf: 34 ppct: 8 formats: fmt: @attributes: type: P tig: atl: Genodermatoses in Las Tunas Province, Cuba, 1989-2019. aug: au: Velázquez-Ávila, Yordania Valenciano-Rodríguez, Carmen R. affil: Assistant professor and adjunct researcher, Mártires de las Tunas Pediatric Provincial Hospital, Las Tunas, Cuba sug: subj: Skin Diseases, Genetic Epidemiology Skin Diseases, Genetic Trends Skin Diseases, Genetic Physiopathology Program Implementation Multidisciplinary Care Team Human Cuba Nonexperimental Studies Descriptive Research Retrospective Design Neurofibromatoses Ehlers-Danlos Syndrome Pyoderma Survival ab: INTRODUCTION Genodermatoses are a group of genetic diseases that affect the skin and adjoining tissues. They represent 15% of genetic diseases worldwide. Cuba established a National Program for the Diagnosis, Care and Prevention of Genetic Diseases and Congenital Abnormalities in 1980, which was implemented in Las Tunas in 1989. In 2010, a specialized multidisciplinary provincial service for genodermatoses patients was established in Las Tunas province. Several studies in Las Tunas show that genodermatoses represent 22.2% of genetic diseases; the most common are ichthyosis (16.7%), mastocytosis (11.7%), and neurofibromatosis (8.3%). Children aged <12 years are the most affected (61.6%). OBJECTIVE Describe genodermatoses in Las Tunas Province, Cuba, since the implementation of the National Program for the Diagnosis, Care, and Prevention of Genetic Diseases and Congenital Abnormalities, and after the creation of a specialized multidisciplinary provincial service for genodermatoses patients. METHODS We conducted an observational, descriptive, retrospective study in 249 patients diagnosed with some type of genoderma-tosis who received care in Las Tunas during 1989-2019. Variables considered were: type of genodermatosis, complications, deaths and geographic location by municipality. We studied prevalence rates (1989-2019), incidence rates (2010-2019), proportion of complications, survival rates, and types of genodermatosis diagnosed by municipality in two periods (1989-2009 and 2010-2019) one before, and one after the implementation of a targeted multidisciplinary provincial care service. RESULTS The general prevalence rate of genodermatoses in Las Tunas Province was 46.51 per 100,000 population. The forms with the highest prevalence rates were neurofibromatosis type 1 (13.6 per 100,000 population), classical Ehlers-Danlos syndrome (7.1 per 100,000), ichthyosis vulgaris (5.0 per 100,000) and cutaneous mastocytosis (2.4 per 100,000). The highest incidence rates coincided with the conditions with the highest prevalence: neurofi-bromatosis type 1 (81.5 per 1000 cases in 2013), classical Ehlers-Danlos syndrome (44.4 per 1000 cases in 2013) and ichthyosis vulgaris (52 per 1000 cases in 2010). From 1989-2009, patients presented a greater frequency of complications, at 40% (22/55) than from 2010-2019 at 21.1% (41/194). Pyodermitis was the most common during the study period (1989-2019), with 29.1% (16/55). Survival was high, at 98.0% (only 5 deaths in 2009, 2010, 2011, 2012, and 2015, and were no deaths during other years) in the study period. The greatest share of genodermatosis cases was registered in the municipality of Majibacoa (0.07%), and consanguinity was found in cases of epidermolysis bullosa, Herlitz type and xeroderma pigmentosum. CONCLUSION In Las Tunas Province, Cuba, genodermatoses as a whole are not rare diseases. Those with the highest prevalence and incidence rates are neurofibromatosis type 1, classical Ehlers-Danlos syndrome and ichthyosis vulgaris. After implementation of the specialized multidisciplinary provincial service for genodermatoses patients within Cuba's National Program for the Diagnosis, Care, and Prevention of Genetic Diseases and Congenital Abnormalities, in addition to the active screening implemented by this Program, more cases were diagnosed, and a lower proportion of complications and a higher survival rates were recorded. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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