Hypohydrotic ectodermal dysplasia with immunodeficiency: a case report
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1
Health, Immunology, Cuba
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2
Health, Genectic, Cuba
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3
Health, Paediatric, Cuba
Abstract: Hypohydrotic ectodermal dysplasia (HED) is a genodermatosis characterized by presenting alterations in the structures derived from the ectoderm, and it is frequently presented in triad: hypohydrosis, hypotrichosis and hypodontia. The syndrome can be manifested by autosomal dominant or recessive inheritance and X-linked, as well. The objective of this article is aimed at presenting a clinical case attended to the provincial office of Immunology in Pinar del Río, Cuba. The clinical and laboratory characteristics of the patient, along with the family genealogy presenting the same disease are analyzed. A 22 year-old female patient attending to the office of the specialty with a history of assisting to different other medical specialties and presenting severe eczema with extreme pruritus, variable localized edema, wheals or constant soap-like urticaria from moderate to severe presentation, frequent bronchial status asthmaticus and recurrent respiratory infections. In her childhood was frequently hospitalized suffering from bronchial asthma. At physical examination oligodontia was observed (canines, molars and premolars), hypotrichosis (scalp, eyebrows, eyelashes, pubic and axillary regions), reddish-fine-sparse and easily broken hair, hypoplasia of hair follicles, atopic dermatitis of flexural localization, thin-sparse skin, moderate to severe eczema (mainly in the inferior limbs), hypohydrosis and heat intolerance. A mild dysphonia and recurrent infections of the respiratory tract (sinusitis, otitis and bronchitis) were described. Laboratory tests proved immunoglobulin-A diminution, conducted by Mancini’s test, and normal levels for the rest of the immunoglobulins. To treat this syndrome a procedure for a comprehensive and multidisciplinary management was proposed, achieving an evident clinical improvement.
Keywords:
hypohidrotic ectodermal dysplasia,
Primary Immunodeficiencies,
antibodies deficiency,
Immunoglobulin A deficiency,
autosomal dominant
Conference:
IMMUNOCOLOMBIA2015 - 11th Congress of the Latin American Association of Immunology - 10o. Congreso de la Asociación Colombiana de Alergia, Asma e Inmunología, Medellin, Colombia, 13 Oct - 16 Oct, 2015.
Presentation Type:
Poster Presentation
Topic:
Immunodeficiencies
Citation:
Orraca Castillo
O,
Orraca Castillo
M,
Quintero Pérez
W,
Iglesias Miranda
Y,
Blanco Valdés
TM and
Licourt Otero
D
(2015). Hypohydrotic ectodermal dysplasia with immunodeficiency: a case report.
Front. Immunol.
Conference Abstract:
IMMUNOCOLOMBIA2015 - 11th Congress of the Latin American Association of Immunology - 10o. Congreso de la Asociación Colombiana de Alergia, Asma e Inmunología.
doi: 10.3389/conf.fimmu.2015.05.00121
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Received:
12 May 2015;
Published Online:
14 Sep 2015.
*
Correspondence:
MD. Odalys Orraca Castillo, Health, Immunology, Pinar del Río, Pinar del Río, 20100, Cuba, anadalys@princesa.pri.sld.cu