Please use this identifier to cite or link to this item: https://repository.ucc.edu.co/handle/20.500.12494/44749
Title: Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes
Author: Arias‑Pérez, Ruben Dario
Gallego‑Quintero, Salomón
Taborda, Natalia
Restrepo, Jorge
Zambrano‑Cruz, Renato
Tamayo‑Agudelo, William
Bermúdez, Patricia
Duque, Constanza
Arroyave, Ismael
Tejada‑Moreno, Johanna
Villegas‑Lanau, Andrés
Mejía‑García, Alejandro
Zapata, Wildeman
Hernandez, Juan C
Cuartas Montoya, Gina Paula
Email autor: gina.cuartasm@campusucc.edu.co
metadata.dc.description.cvlac: https://scienti.minciencias.gov.co/cvlac/visualizador/generarCurriculoCv.do?cod_rh=0001114948
Issue Date: May-2021
Keywords: Harlequin ichthyosis
Congenital ichthyosis
Ichthyosis
Skin disease
Case report
Resume: La ictiosis es un grupo heterogéneo de enfermedades causadas por trastornos genéticos relacionados con la formación de la piel. Se caracterizan por piel seca generalizada, descamación, hiperqueratosis y frecuentemente asociada a eritrodermia. Entre sus diferentes tipos, destaca por su gravedad la ictiosis arlequín (HI). La HI está causada por mutaciones en el gen ABCA12, que codifica proteínas esenciales en el transporte de lípidos epidérmicos y ayuda a mantener la homeostasis del estrato córneo de la epidermis. Sin embargo, debido al amplio espectro de alteraciones genéticas que pueden causar ictiosis, se requiere atención médica holística y estudios genéticos para mejorar el diagnóstico y los resultados de estas enfermedades. Presentación del caso: Aquí, presentamos el caso de un paciente masculino de 19 años de edad, un bebé prematuro y exhibió características clínicas compatibles con HI, incluyendo placas hiperqueratósicas de color amarillo brillante con fisuras eritematosas que cubrían todo su cuerpo como un bebé colodión. Actualmente presentaba eritrodermia, fotosensibilidad, ectropión, alteraciones del pabellón auricular y alteraciones musculoesqueléticas, como pies, dedos, manos y pies equinovaros y hipoplásicos con contracturas en flexión y marcada dificultad en la motricidad fina. Además, presentaba discromatopsia, hiporreflexia del reflejo de Aquiles, lenguaje leve, alteración dentaria y rendimiento cognitivo deficiente. Tras la secuenciación genética, se encontraron variantes en ABCA12 y HRNR que están relacionadas con varias enfermedades de la piel, entre ellas la ictiosis.
Abstract: Abstract Background: Ichthyosis is a heterogeneous group of diseases caused by genetic disorders related to skin formation. They are characterized by generalized dry skin, scaling, hyperkeratosis and frequently associated with erythroderma. Among its different types, harlequin ichthyosis (HI) stands out due to its severity. HI is caused by mutations in the ABCA12 gene, which encodes essential proteins in epidermal lipid transport, and it helps maintain the homeostasis of the stratum corneum of the epidermis. However, due to the wide spectrum of genetic alterations that can cause ichthyosis, holistic medical care, and genetic studies are required to improve the diagnosis and outcomes of these diseases. Case presentation: Here, we presented the case of a 19 years old male patient who was a premature infant and exhibited clinical features consistent with HI, including bright yellow hyperkeratotic plates with erythematous fissures that covered his entire body like a collodion baby. Currently, he exhibited erythroderma, photosensitivity, ectropion, auricular pavilion alterations, and musculoskeletal disorders, such as equinovarus feet, fingers, hands, and hypoplastic feet with contractures in flexion and marked difficulty in fine motor skills. In addition, he presented dyschromatopsia, Achilles reflex hyporeflexia, slight speech, dental alteration and deficient cognitive performance. After the genetic sequencing, variants were found in ABCA12 and HRNR which are related to several skin diseases, including ichthyosis. Conclusions: Although in clinical practice, ichthyosis is a common entity, a severe type of ichthyosis is presented, highlighting the importance of appropriate genetic diagnosis, given the broad spectrum of genetic alterations with similar phenotypic and clinical characteristics. These pathologies must be known to guarantee initial support measures to prevent complications and offer multidisciplinary management to those patients.
Program: Maestría en Psicología de la Salud
Headquarters: Medellín
Publisher: Universidad Cooperativa de Colombia, Medellín, Maestría en Psicología de la Salud
metadata.dc.type: Artículos Científicos
Citation: Rubén D. Arias‑Pérez, Salomón Gallego‑Quintero, Natalia A. Taborda, Jorge E. Restrepo, Renato Zambrano‑Cruz, William Tamayo‑Agudelo, Patricia Bermúdez, Constanza Duque, Ismael Arroyave, Johanna A. Tejada‑Moreno, Andrés Villegas‑Lanau, Alejandro Mejía‑García, Wildeman Zapata, Juan C. Hernández & Gina Cuartas‑Montoya, (2021). Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes. BMC Med Genomics, 14:140, 1-8. https://doi.org/10.1186/s12920-021-00987-y
Resource reference: https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-021-00987-y
Appears in Collections:Psicología

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