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Clinical clue leading to a genetic condition
G Model
ARTICLE IN PRESS Med Clin (Barc). 2017;xxx(xx):xxx–xxx
www.elsevier.es/medicinaclinica
Image in medicine
Clinical clue leading to a genetic condition夽 Detalle clínico para el diagnóstico de una afectación genética José Francisco Millán-Cayetano a,∗ , Pablo Boixeda b a b
Servicio de Dermatología, Hospital Costa del Sol, Marbella, Málaga, Spain Servicio de Dermatología, Hospital Universitario Ramón y Cajal, Madrid, Spain
Fig. 1.
A 34-year-old woman, with no personal history of interest, presented with papules in hands, mouth and tongue, which she’d had since her youth, with occasional bleeding, and repeated episodes of epistaxis. Several of her relatives had experienced distal gastrointestinal bleeding over the years. In addition, her father, her paternal grandmother and her siblings had similar skin lesions, with no other symptoms. Small red-coloured papules located on the fingers (especially on the fingertips), the lips and the tongue were observed on examination, which corresponds to the telangiectasias that can be seen in the image (Fig. 1). The patient was diagnosed of Rendu-Osler-Weber syndrome. Given the association of this entity with arteriovenous malformations (AVM) and with colonic angiodysplasia, a complete screening was performed that showed pulmonary AVM without other abnormalities. AVM was embolized, obtaining an almost complete response. Skin lesions were treated using a pulsed dye laser. The response was maintained during the first year, with no AVM or telangiectasias recurrence.
夽 Please cite this article as: Millán-Cayetano JF, Boixeda P. Detalle clínico para el diagnóstico de una afectación genética. Med Clin (Barc). 2017. http://dx.doi.org/10.1016/ j.medcli.2017.02.008 ∗ Corresponding author. E-mail address: [email protected] (J.F. Millán-Cayetano). ˜ S.L.U. All rights reserved. 2387-0206/© 2017 Elsevier Espana,
MEDCLE-3977; No. of Pages 1
ARTICLE IN PRESS Med Clin (Barc). 2017;xxx(xx):xxx–xxx
www.elsevier.es/medicinaclinica
Image in medicine
Clinical clue leading to a genetic condition夽 Detalle clínico para el diagnóstico de una afectación genética José Francisco Millán-Cayetano a,∗ , Pablo Boixeda b a b
Servicio de Dermatología, Hospital Costa del Sol, Marbella, Málaga, Spain Servicio de Dermatología, Hospital Universitario Ramón y Cajal, Madrid, Spain
Fig. 1.
A 34-year-old woman, with no personal history of interest, presented with papules in hands, mouth and tongue, which she’d had since her youth, with occasional bleeding, and repeated episodes of epistaxis. Several of her relatives had experienced distal gastrointestinal bleeding over the years. In addition, her father, her paternal grandmother and her siblings had similar skin lesions, with no other symptoms. Small red-coloured papules located on the fingers (especially on the fingertips), the lips and the tongue were observed on examination, which corresponds to the telangiectasias that can be seen in the image (Fig. 1). The patient was diagnosed of Rendu-Osler-Weber syndrome. Given the association of this entity with arteriovenous malformations (AVM) and with colonic angiodysplasia, a complete screening was performed that showed pulmonary AVM without other abnormalities. AVM was embolized, obtaining an almost complete response. Skin lesions were treated using a pulsed dye laser. The response was maintained during the first year, with no AVM or telangiectasias recurrence.
夽 Please cite this article as: Millán-Cayetano JF, Boixeda P. Detalle clínico para el diagnóstico de una afectación genética. Med Clin (Barc). 2017. http://dx.doi.org/10.1016/ j.medcli.2017.02.008 ∗ Corresponding author. E-mail address: [email protected] (J.F. Millán-Cayetano). ˜ S.L.U. All rights reserved. 2387-0206/© 2017 Elsevier Espana,
MEDCLE-3977; No. of Pages 1