Results 41 to 50 of about 4,096 (231)

Acral pseudolymphomatous angiokeratoma: case report and literature review [PDF]

Anais Brasileiros de Dermatologia, 2013
The authors describe a case of a female patient with Acral Pseudolymphomatous Angiokeratoma of Children, known as APACHE. It is a rare benign cutaneous disease, of unknown etiology, characterized by multiple, asymptomatic erythematous-violaceous papules ...
Priscila Pacheco Lessa, Juliana Chaib Ferreira Jorge, Flávia Regina Ferreira, Marcia Lanzoni de Alvarenga Lira, Samuel Henrique Mandelbaum   +4 more
doaj   +1 more source

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document. [PDF]

, 2015
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files.
Arngrímsson, Reynir, Barbey, Frederic, Biegstraaten, Marieke, Boks, Lut, Cecchi, Franco, Deegan, Patrick B, Feldt-Rasmussen, Ulla, Geberhiwot, Tarekegn, Germain, Dominique P, Hendriksz, Chris, Hollak, Carla E M, Hughes, Derralynn A, Kantola, Ilkka, Karabul, Nesrin, Lavery, Christine, Linthorst, Gabor E, Mehta, Atul, Oliveira, João P, Parini, Rossella, Ramaswami, Uma, Rudnicki, Michael, Serra, Andreas, Sommer, Claudia, Sunder-Plassmann, Gere, Svarstad, Einar, Sweeb, Annelies, Terryn, Wim, Tylki-Szymanska, Anna, Tøndel, Camilla, van de Mheen, Erica, Vujkovac, Bojan, Weidemann, Frank, Wijburg, Frits A, Woolfson, Peter   +33 more
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Diagnostic Utility of Dermoscopy in Angiokeratoma of Fordyce: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
Angiokeratomas are benign, rarely occurring vascular lesions characterised by marked ectasia of thin-walled blood vessels in the superficial dermis. Angiokeratoma of Fordyce is the second most common type.
Keerthana Rachamadugu, Sabiha Quazi, Bhushan Madke, Rajesh Domakunti, Naga Nitya Vangala   +4 more
doaj   +1 more source

Fabry disease: clinical and genotypic aspects of three cases in first degree relatives [PDF]

, 2014
Fabry disease is an X-linked, lysosomal storage disease caused by the inherited deficiency of the enzyme α-galactosidase A. The diagnosis is usually late, with renal, cardiovascular and/or cerebral complications that reduce life expectancy ...
Badiz, Thais Cardoso De Mello Tucunduva, Enokihara, Milvia Maria Simoes E Silva, Porro, Adriana Maria, Silva, Leticia Bueno Nunes Da   +3 more
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Solitary angiokeratoma presenting as cutaneous horn over the prepuce: A rare appearance

Indian Journal of Dermatology, 2016
We present a case of a 47-year-old man with 4 months history of conical growth on the prepuce with a progressive increase in size. The patient had been treated for seminoma a decade ago. Histopathology of the growth showed features of angiokeratoma.
Manoj Kumar Agarwala, Sramana Mukhopadhyay, M Raja Sekhar, Aswathy Menon, C V Dincy Peter   +4 more
doaj   +1 more source

Anderson-Fabry disease: a multiorgan disease. [PDF]

, 2013
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A . FD causes glycolipids, such as globotriaosylceramide (Gb3), to accumulate in the vascular endothelium of several organs (fig.2 ...
Antonino Tuttolomondo, Antonio Pinto, Giuseppe Licata, Irene Simonetta, Rosaria Pecoraro, Salvatore Miceli   +5 more
core   +1 more source

Radiation-induced vulvar angiokeratoma along with other late radiation toxicities after carcinoma cervix: A rare case report

Indian Journal of Dermatology, 2016
Angiokeratoma including vulvar angiokeratoma is a very rare complication of radiation. Exact incidence is still unknown, we report a case that developed radiation-induced angiokeratoma of skin in the vulvar region along with other late radiation sequelae
Virendra Bhandari, Ayush Naik, K L Gupta, Mehlam Kausar   +3 more
doaj   +1 more source

Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease [PDF]

, 2014
BACKGROUND: Management of Anderson-Fabry disease (AFD) is contentious, particularly regarding enzyme replacement therapy (ERT). We report results of a Delphi consensus panel on AFD management.
Antuzzi, D., Bembi, B., Benso, A., Carraro, G., Chimenti, C., Colla, L., Concolino, D., Cuonzo, M. T., Degennaro, E., Del Rosso, G., Diomedi, M., Feliciani, C., Feriozzi, S., Ficcadenti, A., Frustaci, A., Gnarra, M., Maccarone, M., Mancuso, M., Matucci, A., Mignani, R., Musumeci, B., Nencini, P., Parini, R., Piga, S., Pisani, A., Re, F., Salviati, A., Spada, M., Vultaggio, A., Zachara, E., Zedde, M. L., Zoli, P. G.   +31 more
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Zosteriform lymphangioma circumscriptum and angiokeratoma: A rare co-occurrence

Indian Journal of Dermatopathology and Diagnostic Dermatology, 2020
Lymphangioma circumscriptum (LC) is a rare benign hamartomatous malformation of lymph vessel manifesting at birth or during early childhood. Angiokeratomas (AK) are vascular ectasia of papillary dermal blood vessels with secondary epidermal changes.
Priyanka Arun Kowe, Sakshi S Malpani, Vaishali H Wankhade, Rajesh P Singh   +3 more
doaj   +1 more source

Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study. [PDF]

, 2017
Quality of life (QoL) is decreased in patients with Fabry disease (FD). To improve QoL, it is important to understand the influence of FD related characteristics, symptoms, and complications.
Arends, M, Biegstraaten, M, Hollak, CEM, Hughes, DA, Körver, S, Mehta, A   +5 more
core   +2 more sources