Apresentação Dermatoscópica e Microscópica Confocal de Melanoma Raro do Mamilo

.

Reflectance Confocal Microscopy for the Diagnosis of Galli-Galli Disease

info:eu-repo/semantics/publishedVersio

Rudimentary meningocele: remnant of a neural tube defect?

Background: Rudimentary meningocele, a malformation in which meningothelial elements are present in the skin and subcutaneous tissue, has been described in the past, under a variety of different terms and has also been referred to as cutaneous meningioma. There has been debate as to whether rudimentary meningocele is an atretic form of meningocele or results from growth of meningeal cells displaced along cutaneous nerve

Clusterin expression in cutaneous CD30-positive lymphoproliferative disorders and their histologic simulants

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/73222/1/j.1600-0560.2008.01036.x.pd

Eruptive Epidermoidzysten nach Imiquimod-Therapie eines rezidivierenden Basalzellkarzinoms : Ein Fallbericht

Eruptive Epidermoidzysten stellen eine seltene Nebenwirkung von Imiquimod zur Behandlung von Basalzellkarzinomen dar. Bis dato wurden 8 F\ue4lle in der Literatur beschrieben. Wir pr\ue4sentieren den Fall einer 75-j\ue4hrigen kaukasischen Patientin mit einem 8\u2011mal rezidivierten Basalzellkarzinom der Nase. Nach mehrfachen Exzisionen und Therapie mit Vismodegib erhielt die Patientin schlie flich Imiquimod 5\u202f% Creme in der Standarddosierung 5\u2011mal w\uf6chentlich f\ufcr die Dauer von 6 Wochen. Zwei Monate nach dem Absetzen von Imiquimod zeigten sich eruptive Epidermoidzysten

Eruptive Epidermoidzysten nach Imiquimod-Therapie eines rezidivierenden Basalzellkarzinoms : Ein Fallbericht

Eruptive Epidermoidzysten stellen eine seltene Nebenwirkung von Imiquimod zur Behandlung von Basalzellkarzinomen dar. Bis dato wurden 8 F\ue4lle in der Literatur beschrieben. Wir pr\ue4sentieren den Fall einer 75-j\ue4hrigen kaukasischen Patientin mit einem 8\u2011mal rezidivierten Basalzellkarzinom der Nase. Nach mehrfachen Exzisionen und Therapie mit Vismodegib erhielt die Patientin schlie flich Imiquimod 5\u202f% Creme in der Standarddosierung 5\u2011mal w\uf6chentlich f\ufcr die Dauer von 6 Wochen. Zwei Monate nach dem Absetzen von Imiquimod zeigten sich eruptive Epidermoidzysten

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin

To identify the disease-causing gene responsible for an autosomal dominantly inherited Charcot-Marie-Tooth neuropathy subtype in a family excluded for mutations in the common Charcot-Marie-Tooth genes, we used array-based sequence capture to simultaneously analyse the disease-linked protein coding exome at chromosome 14q32. A missense mutation in fibulin-5, encoding a widely expressed constituent of the extracellular matrix that has an essential role in elastic fibre assembly and has been shown to cause cutis laxa, was detected as the only novel non-synonymous sequence variant within the disease interval. Screening of 112 index probands with unclassified Charcot-Marie-Tooth neuropathies detected two further fibulin-5 missense mutations in two families with Charcot-Marie-Tooth disease and hyperextensible skin. Since fibulin-5 mutations have been described in patients with age-related macular degeneration, an additional 300 probands with exudative age-related macular degeneration were included in this study. Two further fibulin-5 missense mutations were identified in six patients. A mild to severe peripheral neuropathy was detected in the majority of patients with age-related macular degeneration carrying mutations in fibulin-5. This study identifies fibulin-5 as a gene involved in Charcot-Marie-Tooth neuropathies and reveals heterozygous fibulin-5 mutations in 2% of our patients with age-related macular degeneration. Furthermore, it adumbrates a new syndrome by linking concurrent pathologic alterations affecting peripheral nerves, eyes and skin to mutations in the fibulin-5 gen