نتایج جستجو برای: goltz syndrome

تعداد نتایج: 621999  

Journal: :National Journal of Maxillofacial Surgery 2010

Journal: :Indian Journal of Human Genetics 2013

Journal: :Cureus 2023

Gorlin-Goltz syndrome (GGS) among Indians is rarely reported. Since 1960, only 38 cases having 48 patients of have been identified in the Indian population. It crucial to diagnose this illness early because it can be connected a malignant lesion like fibrosarcoma, leiomyosarcoma or rhabdomyosarcoma. The four case series were and treated our department between 2019 2023. average patient age was ...

2010
Randhir Kadyan

The Gulf Journal of Dermatology and Venereology ABSTRACT Focal dermal hypoplasia (FDH) or Goltz syndrome is a rare genodermatosis, characterized by multiple abnormalities of ectodermal and mesodermal origin. We present an infant with focal dermal hypoplasia who, besides having a constellation of anomalies commonly encountered in patients with this syndrome, manifested additional unusual feature...

2017
Henryk Witmanowski Paweł Szychta Katarzyna Błochowiak Arkadiusz Jundziłł Rafał Czajkowski

Address for correspondence: Prof. Henryk Witmanowski MD, PhD, Department of Plastic, Reconstructive and Aesthetic Surgery, Medical College, Nicolaus Copernicus University, 9-11 M. Skłodowska-Curie St, 85-094 Bydgoszcz, phone: +48 52 585 4017, email: [email protected] Received: 21.06.2016, accepted: 2.08.2016. Basal cell nevus syndrome (Gorlin-Goltz syndrome): genetic predisposition, clinical picture...

Journal: :Indian Journal of Dermatology, Venereology, and Leprology 2015

Journal: :Medicina oral, patologia oral y cirugia bucal 2008
Aitziber Ortega García de Amezaga Olatz García Arregui Sergio Zepeda Nuño Amelia Acha Sagredo José M Aguirre Urizar

Gorlin-Goltz syndrome, also known as nevoid basal cell carcicoma syndrome, comes into being due to a genetic alteration produced by a mutation in the "Patched" tumour suppressor gene, and it is inherited in a dominant autosomal way, though sporadic cases have been found. This syndrome shows a high penetrance and variable expressiveness. It is about a multisystemic process that is characterised ...

Journal: :Surgical and Cosmetic Dermatology 2022

Basaloid follicular hamartoma (BFH) is a rare and benign adnexal tumor that resembles basal cell carcinoma (BCC) may present with different clinical manifestations. A mutation in the PTCH gene, involved Gorlin-Goltz syndrome, could be associated pathogenesis of this neoplasm. We describe case 7-year-old girl multiple papules on her face.

Journal: :Acta dermatovenerologica Croatica : ADC 2013
Pietro Curatolo Emanuele Miraglia Roberta Rotunno Stefano Calvieri Sandra Giustini

ACTA DERMATOVENEROLOGICA CROATICA The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma (BCC), has a variable prevalence, estimated from 1/57,000 to 1:256,000 inhabitants (1). It is a rare autosomal dominant disorder due to a genetic mutation in the PTCH tumor suppressor gene localized to 9q22.3 chromosome (2). In order to make a diagnosis of Gorlin-Goltz syndrome, some diagnosti...

Journal: :Acta dermatovenerologica Croatica : ADC 2011
Juliana Corrêa Marques-da-Costa Gabriella Campos-do-Carmo Carolyne de Farias de Araújo Juliany Lima Estefan Beatriz Moritz Trope Marcia Ramos-e-Silva

Focal dermal hypoplasia or Goltz syndrome is a rare X-linked genodermatosis characterized by cutaneous and musculoskeletal defects. Dermoscopy is a noninvasive auxiliary method for the diagnosis of lesions, whether melanocytic or not. Its widespread use in dermatology is resulting in the description of new patterns and characterization of lesions not reported before its use. A typical case of G...

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