Vulvar epidermal inclusion cyst as a long-term complication of female genital mutilation

Autor: Ana Mercedes Victoria-Martínez, Laura Cubells-Sánchez, Lorena Martínez-Leborans, José Luis Sánchez-Carazo, Víctor Alegre de Miquel

Publikováno v: Indian Journal of Dermatology, Vol 61, Iss 1, Pp 119-119 (2016)

We present a case report of a patient with epidermal inclusion cyst as a late complication of female genital mutilation (FGM). We describe the management of the patient, and a review of the literature. We report the clinical and pathological findings

Externí odkaz: https://doaj.org/article/fc7a5b339de6425a85212947b02cd98e

Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome

Autor: Laura Cubells Sánchez, Laura Fontana, Sara G. Romeo, A. Sironi, Palma Finelli, Vanna Pecile, Lidia Larizza, Isabelle Maystadt, Altea Esteve Martínez, Andrea Locatelli, Cristina Gervasini, Nursel Elcioglu, Elisa Colombo

Publikováno v: International Journal of Molecular Sciences, Vol 19, Iss 4, p 1103 (2018)
International Journal of Molecular Sciences
International Journal of Molecular Sciences; Volume 19; Issue 4; Pages: 1103

Biallelic mutations in RECQL4 gene, a caretaker of the genome, cause Rothmund-Thomson type-II syndrome (RTS-II) and confer increased cancer risk if they damage the helicase domain. We describe five families exemplifying clinical and allelic heterogen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26cccec40a9888274fd0d703ed99e3be
http://www.mdpi.com/1422-0067/19/4/1103

Atypical photosensitivity associated with triflusal

Autor: Lorena, Martínez Leboráns, Laura, Cubells Sánchez, Violeta, Zaragoza Ninet, Amparo, Pérez Ferriols

Publikováno v: Contact dermatitis. 75(4)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5d1467148f1508085d89878ad74f4069
https://pubmed.ncbi.nlm.nih.gov/27620122

The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene

Autor: Barbara Kocsis Deák, Juan José Vilata Corell, Alfredo Montoro Botella, Katalin Farkas, Raquel Rodriguez Lopez, Goitzane Marcaida Benito, Joan N.R. Kromosoeto, Ans M.W. van den Ouweland, Tomas Vanecek, Ana Mercedes Victoria Martínez, Nikoletta Nagy, Márta Széll, Laura Cubells Sánchez, Dmitry V. Kazakov, János Varga

Publikováno v: BMC Genetics
BMC Genetics, 17:36. BioMed Central Ltd.

Background Multiple familial trichoepithelioma type 1 (MFT1; MIM 601606), a rare monogenic skin disease with autosomal dominant inheritance, is characterized by the development of multiple skin-colored papules on the central area of the face, frequen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b9b261edf57f643665b7528c551a51f
https://pubmed.ncbi.nlm.nih.gov/26861065

Pustulosis palmoplantar por adalimumab en un paciente con enfermedad de Crohn

Autor: Laura Cubells Sánchez, José María Ortiz Salvador, Daniela Subiabre Ferrer

Publikováno v: Medicina Clínica. 147:565

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6a5269267a3093184d3809be5025e274
https://doi.org/10.1016/j.medcli.2016.05.027