Darier's disease, unusual comedonian variant. A case presentation

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Darier's disease is a rare autosomal dominant genodermatosis caused by the mutation of the ATP2A2 gene located on chromosome 12q23-24.1, which encodes ATPaseCA + 2 endoplasmic sarcoid reticulum (SERCA2). It is characterized in the classical form by crusty papulokeratotic lesions, mainly follicu...

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Autores principales: Pets, E, Volmaro, K, Rodriguez, N, Moyano Crespo, G, Martinez, M, Meza Vetanzo , Z, Castaño, MB, Herrero, MV
Formato: Artículo revista
Lenguaje:Español
Publicado: Universidad Nacional Cba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2019
Materias:
skin
darier
protein
piel
proteína atp2a2
Acceso en línea:https://revistas.unc.edu.ar/index.php/med/article/view/25617
Aporte de:
Revistas de la UNC de Universidad Nacional de Córdoba
id I10-R10-article-25617
record_format ojs
institution Universidad Nacional de Córdoba
institution_str I-10
repository_str R-10
container_title_str Revistas de la UNC
language Español
format Artículo revista
topic skin
darier
protein
piel
darier
proteína atp2a2
spellingShingle skin
darier
protein
piel
darier
proteína atp2a2
Pets, E
Volmaro, K
Rodriguez, N
Moyano Crespo, G
Martinez, M
Meza Vetanzo , Z
Castaño, MB
Herrero, MV
Darier's disease, unusual comedonian variant. A case presentation
topic_facet skin
darier
protein
piel
darier
proteína atp2a2
author Pets, E
Volmaro, K
Rodriguez, N
Moyano Crespo, G
Martinez, M
Meza Vetanzo , Z
Castaño, MB
Herrero, MV
author_facet Pets, E
Volmaro, K
Rodriguez, N
Moyano Crespo, G
Martinez, M
Meza Vetanzo , Z
Castaño, MB
Herrero, MV
author_sort Pets, E
title Darier's disease, unusual comedonian variant. A case presentation
title_short Darier's disease, unusual comedonian variant. A case presentation
title_full Darier's disease, unusual comedonian variant. A case presentation
title_fullStr Darier's disease, unusual comedonian variant. A case presentation
title_full_unstemmed Darier's disease, unusual comedonian variant. A case presentation
title_sort darier's disease, unusual comedonian variant. a case presentation
description Darier's disease is a rare autosomal dominant genodermatosis caused by the mutation of the ATP2A2 gene located on chromosome 12q23-24.1, which encodes ATPaseCA + 2 endoplasmic sarcoid reticulum (SERCA2). It is characterized in the classical form by crusty papulokeratotic lesions, mainly follicular pruritic, which predominate in seborrheic areas and affects the extremities with characteristic longitudinal striations. It is a chronic disease in which episodes of bacterial or viral overinfections are observed and exacerbated by the effects of heat, sun exposure, sweating and medications. Unusual atypical variants such as vesicoampollar, hypertrophic, hemorrhagic, dyschromic and comedonian are distinguished. The aim of the present work is to report a family case of the unusual Comedonian variant of Darier's Disease, of which there are few published cases. The case is a 57-year-old male patient who consulted for presenting papules and hyperkeratotic plaques with comedones on the erythematous base in the frontal, malar, infraclavicular, sternal region, in the upper and lower extremities, and the sacral region, very itchy malodorous of more than 10 years of evolution, triggered by heat and humidity highlighting within a family background a sister with Darier's disease. A multiple treatments with local corticosteroid was given, without improvement. Skin biopsy was performed, which was fixed in 10% formalin, included in paraffin and colored with hematoxylin / eosin techniques. The histological sections showed prominent follicular involvement with dilated follicular infundibles containing keratin residues with parakeratosis, suprabasal acantholysis and dyskeratotic cells with round bodies, grains forming villi with papillary projections. Darier's disease in its comedonian form is unusual and differs from the classical form by the prominent follicular involvement with formation of large comedones, both open and closed. Our contribution is the communication of a familiar case of this unusual variant.
publisher Universidad Nacional Cba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología
publishDate 2019
url https://revistas.unc.edu.ar/index.php/med/article/view/25617
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first_indexed 2022-08-20T01:26:33Z
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spelling I10-R10-article-256172019-11-11T21:18:27Z Darier's disease, unusual comedonian variant. A case presentation Enfermedad de Darier, variante inusual comedoniana. Presentación de un caso Pets, E Volmaro, K Rodriguez, N Moyano Crespo, G Martinez, M Meza Vetanzo , Z Castaño, MB Herrero, MV skin darier protein piel darier proteína atp2a2 Darier's disease is a rare autosomal dominant genodermatosis caused by the mutation of the ATP2A2 gene located on chromosome 12q23-24.1, which encodes ATPaseCA + 2 endoplasmic sarcoid reticulum (SERCA2). It is characterized in the classical form by crusty papulokeratotic lesions, mainly follicular pruritic, which predominate in seborrheic areas and affects the extremities with characteristic longitudinal striations. It is a chronic disease in which episodes of bacterial or viral overinfections are observed and exacerbated by the effects of heat, sun exposure, sweating and medications. Unusual atypical variants such as vesicoampollar, hypertrophic, hemorrhagic, dyschromic and comedonian are distinguished. The aim of the present work is to report a family case of the unusual Comedonian variant of Darier's Disease, of which there are few published cases. The case is a 57-year-old male patient who consulted for presenting papules and hyperkeratotic plaques with comedones on the erythematous base in the frontal, malar, infraclavicular, sternal region, in the upper and lower extremities, and the sacral region, very itchy malodorous of more than 10 years of evolution, triggered by heat and humidity highlighting within a family background a sister with Darier's disease. A multiple treatments with local corticosteroid was given, without improvement. Skin biopsy was performed, which was fixed in 10% formalin, included in paraffin and colored with hematoxylin / eosin techniques. The histological sections showed prominent follicular involvement with dilated follicular infundibles containing keratin residues with parakeratosis, suprabasal acantholysis and dyskeratotic cells with round bodies, grains forming villi with papillary projections. Darier's disease in its comedonian form is unusual and differs from the classical form by the prominent follicular involvement with formation of large comedones, both open and closed. Our contribution is the communication of a familiar case of this unusual variant. La Enfermedad de Darier es una genodermatosis poco frecuente de transmisión autosómica dominante causada por la mutación del gen ATP2A2 localizado en el cromosoma 12q23-24.1, que codifica la ATPasaCA+2 retículo sarco endoplásmico (SERCA2). Se caracteriza en la forma clásica por lesiones papuloqueratósicas costrosas, pruriginosas principalmente foliculares, que predominan en las zonas seborreicas y que afecta las extremidades con estriaciones longitudinales ungueales características. Es una enfermedad crónica en la que se observa episodios de sobreinfecciones bacterianas o víricas y exacerbada por efecto del calor, la exposición solar, sudoración y medicamentos. Se distinguen variantes atípicas inusuales como la vesicoampollar, hipertrófica, hemorrágica, discrómica y comedoniana. El objetivo del presente trabajo es comunicar un caso familiar de la variante inusual comedoniana de Enfermedad de Darier,  de la cual existen pocos casos publicados. El caso es un paciente de sexo masculino de 57 años que consultó por presentar pápulas y placas hiperqueratósicas con comedones sobre base eritematosa en región frontal, malar, infraclavicular, esternal, en extremidades superiores e inferiores y región sacra, muy pruriginosas y mal oliente de más de 10 años de evolución, desencadenadas por el calor y la humedad destacando dentro de los antecedentes familiares a una hermana con enfermedad de Darier. Se le suministró múltiples tratamientos con corticoides locales sin mejoría. Se realizó biopsia  cutánea, la cual se fijó en formol al 10%, se incluyó en parafina y se coloreó con técnicas de hematoxilina/eosina.  Los cortes histológicos mostraron compromiso folicular prominente con infundíbulos foliculares dilatados conteniendo restos de queratina con paraqueratosis, acantólisis suprabasal  y células disqueratósicas con cuerpos redondos, granos conformando vellosidades con proyecciones papilares. La enfermedad de Darier en su forma comedoniana es inusual  y difiere de la forma clásica por el compromiso folicular prominente con formación de grandes comedones, tanto abiertos como cerrados. Nuestro aporte es la comunicación de un caso familiar de esta variante inusual. Universidad Nacional Cba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2019-10-08 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion application/pdf https://revistas.unc.edu.ar/index.php/med/article/view/25617 Revista de la Facultad de Ciencias Médicas de Córdoba.; 2019: Suplemento JIC XX Revista de la Facultad de Ciencias Médicas de Córdoba; 2019: Suplemento JIC XX Revista da Faculdade de Ciências Médicas de Córdoba; 2019: Suplemento JIC XX 1853-0605 0014-6722 spa https://revistas.unc.edu.ar/index.php/med/article/view/25617/27358 Derechos de autor 2019 Universidad Nacional de Córdoba

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