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2019, Number 4

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Correo Científico Médico 2019; 23 (4)

Behavior of ectodermal dysplasias in Holguín province. Skin care and social protection

Santana HEE
Full text How to cite this article

Language: Spanish
References: 16
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Key words:

ectodermal dysplasias, hypodontia, absence of hair follicles, dental malformation, poor sweating, sparse hair.

ABSTRACT

Introduction: ectodermal dysplasias are genetic diseases characterized by alterations in structures derived from the ectoderm. The Cuban government, together with the Ministry of Public Health, has established a multidisciplinary monitoring that benefits these patients.
Objective: to describe the phenotypical characteristics that distinguish this disease in the province, and the positive influence of skin care and the benefits of social protection in our country.
Methods: a cross-sectional study was carried out. The sample consisted of 23 patients, with clinical diagnosis of ectodermal dysplasias, living in Holguin province from January 2009 to December 2017. Their medical records were reviewed and demographic and clinical variables were analyzed, the latter related to skin care and early diagnosis, as well as the benefits that social security and the government provide for these patients.
Results: male patients prevailed, 19 sufferers that meant 82.6%; 8 had clinical diagnosis made before they were 2 years old, which allowed to take early measures for the protection of the skin, together with motor and cognitive development according to age, as well as adequate school and social insertion. 20 patients (86.9%), showed good skin conditions.
All these patients received support from social security and the government, who improved their houses and provided air conditioned bedrooms.
Conclusions: immediate clinical diagnosis proves to be of great value for multidisciplinary monitoring. Early diagnosis together with skin care and the benefits offered by the government through social security, improved the quality of life of these patients. All of them have adequate school and labor insertion. The majority lives in the municipalities of Holguín, Calixto García and Mayarí.


REFERENCES

  1. Hou Y, Jin Y, Lin X, Chai G, Zhang Y, Qi Z. Individualized Plastic Reconstruction Strategy for Patients With Ectodermal Dysplasia Syndrome. Ann Plast Surg. 2017 [citado 10 mar 2018]78(6):684-691. Disponible en: https://journals.lww.com/annalsplasticsurgery/Fulltext/2017/06000/Individualized_Plastic_Reconstruction_Strategy_for.17.aspx

  2. Halai T, Stevens C. Ectodermal Dysplasia: A Clinical Overview for the Dental Practitioner. Dent Update. 2015[citado 10 mar 2018] 42(8):779-80. Disponible en: https://www.magonlinelibrary.com/doi/abs/10.12968/denu.2015.42.8.779

  3. Mehmood S, Raza SI, Van Bokhoven H, Ahmad W. Autosomal recessive transmission of a rare HOXC13 variant causes pure hair and nail ectodermal dysplasia. Clin Exp Dermatol. 2017 [citado 10 mar 2018]; 42(5):585-589. Disponible en: https://www.researchgate.net/profile/Sabba_Mehmood/publication/317189954_Autosomal_recessive_transmission_of_a_rare_HOXC13_variant_causes_pure_hair_and_nail_ectodermal_dysplasia/links/59e99cc3aca272bc42b34b6a/Autosomal-recessive-transmission-of-a-rare-HOXC13-variant-causes-pure-hair-and-nail-ectodermal-dysplasia.pdf

  4. Alatas ET, Kara A, Kara M, Dogan G, Baysal O. Ectodermal dysplasia-skin fragility syndrome with a new mutation. Indian J Dermatol Venereol Leprol. 2017[citado 10 mar 2018]; 83(4):476-479.Disponible en: http://www.ijdvl.com/article.asp?issn=0378-6323;year=2017;volume=83;issue=4;spage=476;epage=479;aulast=Alatas

  5. Xu XG, Lv Y, Yan H, Qu L, Xiao T, Geng L, et al. Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands. Acta Derm Venereol. 2017[citado 10 mar 2018]; 97(8):984-985 Disponible en: https://www.ingentaconnect.com/contentone/mjl/adv/2017/00000097/f0030008/art00022

  6. Khan AK, Muhammad N, Aziz A, Khan SA, Shah K, Nasir A, et al. A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family. BMC Med Genet. 2017[citado 10 mar 2018];18(1):42. Disponible en: https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-017-0402-y

  7. Sfeir E, Nahass MG, Mourad A. Evaluation of Masticatory Stimulation Effect on the Maxillary Transversal Growth in Ectodermal Dysplasia Children. Int J Clin Pediatr Dent. 2017[citado 10 mar 2018];10(1):55-61. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5360805

  8. Torkamandi S, Gholami M, Mohammadi Asl J, Rezaie S, Zaimy MA, Omrani MD. A Novel Splicesite Mutation in the Gene Causes Severe Autosomal Recessive Hypohydrotic (Anhidrotic) Ectodermal Dysplasia in an Iranian Family. Int J Mol Cell Med. 2016[citado 10 mar 2018]5(4):260-263. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/28357203

  9. Callea M, Cammarata-Scalisi F, Willoughby CE, Giglio SR, Sani I, Bargiacchi S, et al. Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia. Arch Argent Pediatr. 2017[citado 10 mar 2018]; 115(1):34-38. Disponible en: https://livrepository.liverpool.ac.uk/3006007/1/5030.PCC.Callea.pdf

  10. Guerrero Fernández J, Guerrero Vázquez J, Guiote Domínguez MV. Hyperpyrexia as a guiding sign for the early diagnosis of x-linked hypohidrotic ectodermic dysplasia. An Pediatr (Barc). 2003 [citado 10 mar 2018]59(1):122-123. Disponible en: https://europepmc.org/article/med/12887882

  11. Giannetti L, Rapelli G, Consolo U. Tooth disorders in ectodermal dysplasias. Minerva Stomatol. 2003;52(4):181-185.

  12. Docquier MA, Veyckemans F, Prudhomme S, Rossillon R. Anesthesia in a child presenting a anhydrotic ectodermic dysplasia associated with a multiminicore myopathy. Can J Anaesth. 2000 [citado 10 mar 2018];47(5):449-453. Disponible en: https://europepmc.org/article/med/10831202

  13. Halai T, Stevens C. Ectodermal Dysplasia: A Clinical Overview for the Dental Practitioner. Dent Update. 2015 [citado 10 mar 2018];42(8):779-780. Disponible en: https://www.magonlinelibrary.com/doi/abs/10.12968/denu.2015.42.8.779

  14. Hadj Rabia S, Jacob S, Dufresne H, Mashiah J, Vaivre-Douret L, Bodemer C. Cognitive profile of school-age children and teenagers with hypohidrotic ectodermal dysplasia. Am J Med Genet A. 2014[citado 10 mar 2018]164(10):2461-2464. Disponible en: https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.36519

  15. Derbanne MA, Sitbon MC, Landru MM, Naveau A. Case report: Early prosthetic treatment in children with ectodermal dysplasia. Eur Arch Paediatr Dent. 2010[citado 10 mar 2018]11(6):301-305. Disponible en: https://link.springer.com/article/10.1007/BF03262768

  16. Julapalli MR, Scher RK, Sybert VP, Siegfried EC, Bree AF. Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. Am J Med Genet A. 2009 [citado 10 mar 2018] 149(9):1900-1906. Disponible en: https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.32797




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