Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes
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 ic...
- Autores:
-
Arias Pérez, Ruben Dario
Gallego Quintero, Salomón
Taborda, Natalia
Restrepo Carvajal, Jorge Emiro
Zambrano Cruz, Renato
Tamayo Agudelo, William
Bermúdez, Patricia
Duque, Constanza
Arroyave, Ismael
Tejada Moreno, Johanna
Villegas Lanau, Andrés
Mejía García, Alejandro
Zapata Builes, Wildeman
Hernández López, Juan Carlos
Cuartas Montoya, Gina Paula
- Tipo de recurso:
- Article of investigation
- Fecha de publicación:
- 2021
- Institución:
- Universidad Cooperativa de Colombia
- Repositorio:
- Repositorio UCC
- Idioma:
- OAI Identifier:
- oai:repository.ucc.edu.co:20.500.12494/44749
- Acceso en línea:
- https://doi.org/10.1186/s12920-021-00987-y
https://hdl.handle.net/20.500.12494/44749
- Palabra clave:
- Harlequin ichthyosis
Congenital ichthyosis
Ichthyosis
Skin disease
Case report
Harlequin ichthyosis
Congenital ichthyosis
Ichthyosis
Skin disease
Case report
- Rights
- closedAccess
- License
- Atribución
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Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes |
| title |
Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes |
| spellingShingle |
Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes Harlequin ichthyosis Congenital ichthyosis Ichthyosis Skin disease Case report Harlequin ichthyosis Congenital ichthyosis Ichthyosis Skin disease Case report |
| title_short |
Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes |
| title_full |
Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes |
| title_fullStr |
Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes |
| title_full_unstemmed |
Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes |
| title_sort |
Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes |
| dc.creator.fl_str_mv |
Arias Pérez, Ruben Dario Gallego Quintero, Salomón Taborda, Natalia Restrepo Carvajal, Jorge Emiro Zambrano Cruz, Renato Tamayo Agudelo, William Bermúdez, Patricia Duque, Constanza Arroyave, Ismael Tejada Moreno, Johanna Villegas Lanau, Andrés Mejía García, Alejandro Zapata Builes, Wildeman Hernández López, Juan Carlos Cuartas Montoya, Gina Paula |
| dc.contributor.author.none.fl_str_mv |
Arias Pérez, Ruben Dario Gallego Quintero, Salomón Taborda, Natalia Restrepo Carvajal, Jorge Emiro Zambrano Cruz, Renato Tamayo Agudelo, William Bermúdez, Patricia Duque, Constanza Arroyave, Ismael Tejada Moreno, Johanna Villegas Lanau, Andrés Mejía García, Alejandro Zapata Builes, Wildeman Hernández López, Juan Carlos Cuartas Montoya, Gina Paula |
| dc.subject.spa.fl_str_mv |
Harlequin ichthyosis Congenital ichthyosis Ichthyosis Skin disease Case report |
| topic |
Harlequin ichthyosis Congenital ichthyosis Ichthyosis Skin disease Case report Harlequin ichthyosis Congenital ichthyosis Ichthyosis Skin disease Case report |
| dc.subject.other.spa.fl_str_mv |
Harlequin ichthyosis Congenital ichthyosis Ichthyosis Skin disease Case report |
| description |
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. |
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2021 |
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2021-05 |
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2022-04-29T16:50:03Z |
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2022-04-29T16:50:03Z |
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Artículos Científicos |
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info:eu-repo/semantics/publishedVersion |
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1755-8794 |
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https://doi.org/10.1186/s12920-021-00987-y |
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https://hdl.handle.net/20.500.12494/44749 |
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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 |
| identifier_str_mv |
1755-8794 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 |
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https://doi.org/10.1186/s12920-021-00987-y https://hdl.handle.net/20.500.12494/44749 |
| dc.relation.isversionof.spa.fl_str_mv |
https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-021-00987-y |
| dc.relation.ispartofjournal.spa.fl_str_mv |
BMC Med Genomics |
| dc.relation.references.spa.fl_str_mv |
Akiyama M. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic conceptsa. Hum Mutat. 2010;31(10):1090–6. Hausser I, Vabres P, Hohl D, Ishida-Yamamoto A, Tadini G, Leigh I, et al. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol. 2010;63(4):607–41. Takeichi T, Akiyama M. Inherited ichthyosis: non-syndromic forms. J Dermatol. 2016;43(3):242–51. Murase C, Nakatochi M, Kanekura T, Tohyama M, Kurosawa M, Masuda K, et al. Cross-sectional survey on disease severity in Japanese patients with harlequin ichthyosis/ichthyosis: syndromic forms and quality-of-life analysis in a subgroup. J Dermatol Sci. 2018;92(2):127–33. Schmuth M, Martinz V, Janecke AR, Fauth C, Schossig A, Zschocke J, et al. Inherited ichthyoses/generalized Mendelian disorders of cornification. Eur J Hum Genet. 2013;21(2):123–33. Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J. Ictiosis congénitas autosómicas recesivas. Actas Dermosifiliogr. 2013;104(4):270–84. Rajpopat S, Moss C, Mellerio J, Vahlquist A, Gånemo A, Hellstrom-Pigg M, et al. Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. Arch Dermatol. 2011;147(6):681 Loo BKG, Batilando MJ, Tan EC, Koh MJA. Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis. BMJ Case Rep. 2018;2018:bcr-2017-222025 Shruthi B, Nilgar BR, Dalal A, Limbani N. Harlequin ichthyosis: a rare case. Turk J Obstet Gynecol. 2017;14(2):138–40. Yang S, Bayart C, Brandling-Bennett H. An atypical presentation of herpes simplex virus infection in Harlequin ichthyosis. Pediatr Dermatol. 2018;35(6):1–2. Zhang L, Ferreyros M, Feng W, Hupe M, Crumrine DA, Chen J, et al. Defects in stratum corneum desquamation are the predominant effect of impaired ABCA12 function in a novel mouse model of harlequin ichthyosis. PLoS ONE. 2016;11(8):e0161465. Akiyama M. The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation. Biochim Biophys Acta Mol Cell Biol Lipids. 2014;1841(3):435–40. Nayak S, Dash SP, Khatua M. Fetal harlequin ichthyosis-a case report. IOSR J Dent Med Sci . 2015;14(11):81–6. Kurosawa M, Uehara R, Takagi A, Aoyama Y, Iwatsuki K, Amagai M, et al. Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan. J Am Acad Dermatol. 2018;81(5):1086–92 Incecık F, Herguner OM, Ozbek MN, Gungor S, Yılmaz M, Rizzo WB, et al. Neuro-ichthyotic syndromes: a case series. J Pediatr Neurosci. 2018;13(1):34–8. Dufresne H, Hadj-Rabia S, Méni C, Sibaud V, Bodemer C, Taïeb C. Family burden in inherited ichthyosis: creation of a specific questionnaire. Orphanet J Rare Dis. 2013;8(1):28. Ostrosky F, Gómez ME, Matute E, Rosselli M, Ardila APD. Neuropsi: Atención y Memoria. 3rd ed. México: Manual Moderno; 2019. Beck AT, Steer RA, Brown GK. Beck Depression Inventory Manual. San Antonio: Psychological Corporation; 1993. p. 38. Costa PT, McCrae RR. The NEO-PI/NEO-FFI Manual Supplement. Odessa: Psychological Assessment Resources; 1989 Buitrago N, Monsalve C, Morales C, Ochoca C, Pizarro T. Guía De Práctica Clínica En Ortodoncia IPS CES Sabaneta. Medellín: Universidad CES; 2014. Botero Mariaca PM, Vélez TN. Manual de historia clínica odontológica del escolar. Bogotá: Universida. Manual de historia clínica odontológica del escolar; 2016. p. 302. Nava M, Benítez O, Onofre M, Nava J, Galdocerna P. Remodelación ósea mandibular en adultos. Rev ADM. 2009;65(4):18–22. Shimizu Y, Ogawa Y, Sugiura K, Takeda J, Akiyama M. A Palindromic motif in the 2 2084 to 2 2078 upstream region is essential for ABCA12 promoter function in cultured human keratinocytes. Sci Rep. 2014;4(6737):1–5. Vahlquist A. Inherited nonsyndromic ichthyoses: an update on pathophysiology, diagnosis and treatment. Am J Clin Dermatol. 2018;19:51–66. Sugiura K, Akiyama M. Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis. J Dermatol Sci. 2015;12:1–6. Shibata A, Akiyama M. Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan. Pediatr Int. 2015;57(4):516–22. Goldsmith T, Fuchs-Telem D, Israeli S, Sarig O, Padalon-Brauch G, Bergman R. The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12. Exp Dermatol. 2013;22(4):251–4. Montalván-Suárez M, Esperón-Moldes US, Rodríguez-Pazos L, Ordóñez- Ugalde A, Moscoso F, Ugalde-Noritz N, et al. A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: a step forward in genotype-phenotype correlations. Mol Genet Genomic Med [Internet]. 2019;7(5):1–15. https:// doi. org/ 10. 1002/ mgg3. 608. Wu Z, Meyer-Hoffert U, Reithmayer K, Paus R, Hansmann B, He Y, et al. Highly complex peptide aggregates of the S100 fused-type protein hornerin are present in human skin. J Invest Dermatol. 2009;129(6):1446–58. Chermnykh ES, Alpeeva EV, Vorotelyak EA. Transglutaminase 3: the involvement in epithelial differentiation and cancer. Cells. 2020;9:1996. Hernández-Martín A, Cuadrado-Corrales N, Ciria-Abad S, Arias-Palomo D, Mascaró-Galy JM, Escámez MJ, et al. X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient. Dermatology. 2010;221(2):113–6. Mashiah J, Harel A, Bitterman O, Sagi L, Gat A, Fellig Y, et al. Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy. Clin Exp Dermatol. 2016;41(4):390–3. Ni C, Cheng RH, Zhang J, Liang JY, Wei RQ, Li M, et al. Novel and recurrent PHGDH and PSAT1 mutations in Chinese patients with Neu-Laxova syndrome. Eur J Dermatol. 2019;29(6):641–6 Scalais E, Connerotte AC, Despontin K, Biver A, Ceuterick-de Groote C, Alders M, et al. Shwachman–Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype. Am J Med Genet Part A. 2016;170(7):1799–805. Corr PJ, DeYoung CG, McNaughton N. Motivation and personality: a neuropsychological perspective. Soc Pers Psychol Compass. 2013;7(3):158–75. Restrepo JE. Correlatos cognitivos y neuropsicológicos de los cinco grandes: una revisión en el área de la neurociencia de la personalidad. Pensando Psicol. 2015;11(18):107. Pocnet C, Dupuis M, Congard A, Jopp D. Personality and its links to quality of life: mediating effects of emotion regulation and self-efficacy beliefs. Motiv Emot. 2017;41(2):196–208. |
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Arias Pérez, Ruben DarioGallego Quintero, SalomónTaborda, NataliaRestrepo Carvajal, Jorge Emiro Zambrano Cruz, RenatoTamayo Agudelo, WilliamBermúdez, PatriciaDuque, ConstanzaArroyave, IsmaelTejada Moreno, JohannaVillegas Lanau, AndrésMejía García, AlejandroZapata Builes, WildemanHernández López, Juan CarlosCuartas Montoya, Gina Paula14:1402022-04-29T16:50:03Z2022-04-29T16:50:03Z2021-051755-8794https://doi.org/10.1186/s12920-021-00987-yhttps://hdl.handle.net/20.500.12494/44749Rubén 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-yLa 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 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.https://scienti.minciencias.gov.co/cvlac/visualizador/generarCurriculoCv.do?cod_rh=0001114948https://orcid.org/0000-0001-5385-1560Neurociencia y cognicióngina.cuartasm@campusucc.edu.cohttps://scholar.google.com.co/citations?user=xSOiCrsAAAAJ&hl=en8Universidad Cooperativa de Colombia, Medellín, Maestría en Psicología de la SaludMaestría en Psicología de la SaludMedellínhttps://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-021-00987-yBMC Med GenomicsAkiyama M. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic conceptsa. Hum Mutat. 2010;31(10):1090–6.Hausser I, Vabres P, Hohl D, Ishida-Yamamoto A, Tadini G, Leigh I, et al. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol. 2010;63(4):607–41.Takeichi T, Akiyama M. Inherited ichthyosis: non-syndromic forms. J Dermatol. 2016;43(3):242–51.Murase C, Nakatochi M, Kanekura T, Tohyama M, Kurosawa M, Masuda K, et al. Cross-sectional survey on disease severity in Japanese patients with harlequin ichthyosis/ichthyosis: syndromic forms and quality-of-life analysis in a subgroup. J Dermatol Sci. 2018;92(2):127–33.Schmuth M, Martinz V, Janecke AR, Fauth C, Schossig A, Zschocke J, et al. Inherited ichthyoses/generalized Mendelian disorders of cornification. Eur J Hum Genet. 2013;21(2):123–33.Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J. Ictiosis congénitas autosómicas recesivas. Actas Dermosifiliogr. 2013;104(4):270–84.Rajpopat S, Moss C, Mellerio J, Vahlquist A, Gånemo A, Hellstrom-Pigg M, et al. Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. Arch Dermatol. 2011;147(6):681Loo BKG, Batilando MJ, Tan EC, Koh MJA. Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis. BMJ Case Rep. 2018;2018:bcr-2017-222025Shruthi B, Nilgar BR, Dalal A, Limbani N. Harlequin ichthyosis: a rare case. Turk J Obstet Gynecol. 2017;14(2):138–40.Yang S, Bayart C, Brandling-Bennett H. An atypical presentation of herpes simplex virus infection in Harlequin ichthyosis. Pediatr Dermatol. 2018;35(6):1–2.Zhang L, Ferreyros M, Feng W, Hupe M, Crumrine DA, Chen J, et al. Defects in stratum corneum desquamation are the predominant effect of impaired ABCA12 function in a novel mouse model of harlequin ichthyosis. PLoS ONE. 2016;11(8):e0161465.Akiyama M. The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation. Biochim Biophys Acta Mol Cell Biol Lipids. 2014;1841(3):435–40.Nayak S, Dash SP, Khatua M. 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Motiv Emot. 2017;41(2):196–208.Harlequin ichthyosisCongenital ichthyosisIchthyosisSkin diseaseCase reportHarlequin ichthyosisCongenital ichthyosisIchthyosisSkin diseaseCase reportIchthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genesArtículos Científicosinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_2df8fbb1http://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleAtribucióninfo:eu-repo/semantics/closedAccesshttp://purl.org/coar/access_right/c_14cbPublicationORIGINAL2021_case_ichthyosis.pdf2021_case_ichthyosis.pdfArtículoapplication/pdf1283816https://repository.ucc.edu.co/bitstreams/bc715ef7-e1be-44eb-90a4-5a9b767b4b84/download125528ab1b78e1b554d31ba7b508884eMD51LICENSElicense.txtlicense.txttext/plain; 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