Bloom syndrome sans characteristic facial features in a mestizo patient- a diagnostic challenge
Bloom syndrome is a rare dermatosis, clinically diagnosed by characteristic cutaneous features, many of them affecting the face. The expected phenotype is a small for age patient with micrognatia, dolichocephaly, malar erythema, photosensitivity, multiple café‑au‑lait macules, and immunodeficiency....
| Autores principales: | , , , , , , , |
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| Formato: | Artículo |
| Lenguaje: | Spanish / Castilian |
| Publicado: |
Indian Association of Dermatologists, Venereologists and Leprologists
2019
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| Materias: | |
| Acceso en línea: | http://eprints.uanl.mx/27747/7/27747.pdf |
| _version_ | 1824420810330210304 |
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| author | Chávez Álvarez, Sonia Villarreal Martínez, Alejandra Velasco Campo, Ma. del Roble Moreno Vega, Isabel Martínez de Villarreal, Laura Elia Herz Ruelas, Maira Elizabeth Ocampo Candiani, Jorge Campos Acevedo, Luis Daniel |
| author_facet | Chávez Álvarez, Sonia Villarreal Martínez, Alejandra Velasco Campo, Ma. del Roble Moreno Vega, Isabel Martínez de Villarreal, Laura Elia Herz Ruelas, Maira Elizabeth Ocampo Candiani, Jorge Campos Acevedo, Luis Daniel |
| author_sort | Chávez Álvarez, Sonia |
| collection | Repositorio Institucional |
| description | Bloom syndrome is a rare dermatosis, clinically diagnosed by characteristic cutaneous features, many of them affecting the face. The expected phenotype is a small for age patient with micrognatia, dolichocephaly, malar erythema, photosensitivity, multiple café‑au‑lait macules, and immunodeficiency. Here we present a 12‑year‑old Mestizo patient with clinical features of Bloom syndrome devoid of malar erythema and photosensitivity. This case illustrates that Bloom syndrome should be suspected even in the absence of hallmark facial erythema, especially in the Latin and Asian populations. |
| format | Article |
| id | eprints-27747 |
| institution | UANL |
| language | Spanish / Castilian |
| publishDate | 2019 |
| publisher | Indian Association of Dermatologists, Venereologists and Leprologists |
| record_format | eprints |
| spelling | eprints-277472024-07-22T18:18:52Z http://eprints.uanl.mx/27747/ Bloom syndrome sans characteristic facial features in a mestizo patient- a diagnostic challenge Chávez Álvarez, Sonia Villarreal Martínez, Alejandra Velasco Campo, Ma. del Roble Moreno Vega, Isabel Martínez de Villarreal, Laura Elia Herz Ruelas, Maira Elizabeth Ocampo Candiani, Jorge Campos Acevedo, Luis Daniel RL Dermatología Bloom syndrome is a rare dermatosis, clinically diagnosed by characteristic cutaneous features, many of them affecting the face. The expected phenotype is a small for age patient with micrognatia, dolichocephaly, malar erythema, photosensitivity, multiple café‑au‑lait macules, and immunodeficiency. Here we present a 12‑year‑old Mestizo patient with clinical features of Bloom syndrome devoid of malar erythema and photosensitivity. This case illustrates that Bloom syndrome should be suspected even in the absence of hallmark facial erythema, especially in the Latin and Asian populations. Indian Association of Dermatologists, Venereologists and Leprologists 2019 Article PeerReviewed text es cc_by_nc_nd http://eprints.uanl.mx/27747/7/27747.pdf http://eprints.uanl.mx/27747/7.haspreviewThumbnailVersion/27747.pdf Chávez Álvarez, Sonia y Villarreal Martínez, Alejandra y Velasco Campo, Ma. del Roble y Moreno Vega, Isabel y Martínez de Villarreal, Laura Elia y Herz Ruelas, Maira Elizabeth y Ocampo Candiani, Jorge y Campos Acevedo, Luis Daniel (2019) Bloom syndrome sans characteristic facial features in a mestizo patient- a diagnostic challenge. Indian Journal of Dermatology, Venereology and Leprology, 85 (1). pp. 130-134. ISSN 0973-3922 https://ijdvl.com/bloom-syndrome-sans-characteristic-facial-features-in-a-mestizo-patient-a-diagnostic-challenge/ doi: 10.4103/ijdvl.IJDVL_787_16 |
| spellingShingle | RL Dermatología Chávez Álvarez, Sonia Villarreal Martínez, Alejandra Velasco Campo, Ma. del Roble Moreno Vega, Isabel Martínez de Villarreal, Laura Elia Herz Ruelas, Maira Elizabeth Ocampo Candiani, Jorge Campos Acevedo, Luis Daniel Bloom syndrome sans characteristic facial features in a mestizo patient- a diagnostic challenge |
| thumbnail | https://rediab.uanl.mx/themes/sandal5/images/online.png |
| title | Bloom syndrome sans characteristic facial features in a mestizo patient- a diagnostic challenge |
| title_full | Bloom syndrome sans characteristic facial features in a mestizo patient- a diagnostic challenge |
| title_fullStr | Bloom syndrome sans characteristic facial features in a mestizo patient- a diagnostic challenge |
| title_full_unstemmed | Bloom syndrome sans characteristic facial features in a mestizo patient- a diagnostic challenge |
| title_short | Bloom syndrome sans characteristic facial features in a mestizo patient- a diagnostic challenge |
| title_sort | bloom syndrome sans characteristic facial features in a mestizo patient a diagnostic challenge |
| topic | RL Dermatología |
| url | http://eprints.uanl.mx/27747/7/27747.pdf |
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