Results 31 to 40 of about 14,663 (163)
Mutation-independent treatment of autosomal dominant Retinitis Pigmentosa (adRP) [PDF]
, 2010 Viral-mediated gene therapy holds great promise for the treatment of severe inherited retinal diseases, such as Retintitis Pigmentosa (RP), which is caused by mutations in genes preferentially expressed in photoreceptor cells. The availability of vectors
Mussolino, Claudio
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Vestnik Dermatologii i Venerologii, 2017 The authors describe the clinical observation of a case of the aggressive systemic mastocytosis with skin involvement, the type of generalized urticaria pigmentosa.
E. V. Sokolovskiy +3 more
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Adult urticaria pigmentosa: successful treatment in association with phototherapy
, 2020 Introdução: A urticária pigmentosa em adultos é uma forma de mastocitose rara e persistente, frequentemente com manifestações sistêmicas e acometimento da medula óssea, e manifestações cutâneas menos evidentes, ao contrário do que ocorre na infância ...
Morgado de Abreu, Marilda Aparecida Milanez +2 more
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Diagnosis and treatment of urticaria in primary care
İstanbul Kuzey Klinikleri, 2019 Urticaria, also known as hives among people, is a very common disease characterized by erythematous, edematous, itchy, and transient plaques that involve skin and mucous membranes.
Melek Aslan Kayiran, Necmettin Akdeniz
doaj +1 more source
Systemic Mastocytosis: Predominantly Involving the Bone, A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2013 Systemic mastocytosis (SM) is a rare clonal disorder of mast cells that can range from chronic smouldering type to aggressive mast cell leukaemia. It presents with non–specific symptoms like urticaria pigmentosa, unexplained flushing, hypotension and ...
Ketan P Mallya +4 more
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Journal of International Medical Research, 2020 Mastocytosis is an accumulation of clonal mast cells within tissues and it is most commonly caused by an activating mutation in the KIT gene. In this study, we report a neonatal case who presented with diffuse cutaneous mastocytosis (CM) at birth.
Yanfang Li +4 more
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Chronic Mastocytosis. Case Report and Literature Review
Revista Finlay, 2023 Chronic cutaneous mastocytosis is a genodermatosis of unknown etiology and that is within the group of rare or infrequent diseases. They are characterized by the growth and accumulation of mast cells in the skin and other organs of unknown cause and ...
Iraima Mayón Moya +2 more
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Mastocitosis cutánea maculopapular infantil: reporte de un caso
Revista Médica Clínica Las Condes, 2019 Resumen: Objetivo: Reportar un caso de mastocitosis cutánea maculopapular de inicio en la infancia y realizar una revisión bibliográfica con énfasis en el diagnóstico, estudio, pronóstico y tratamiento.
Renatta de Grazia +3 more
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Co-Occurrence of neurofibromatosis-1 with urticaria pigmentosa: A Coincidental association?
Clinical Dermatology Review, 2020 Neurofibromatosis-1 (NF-1) is a neuroectodermal abnormality characterized by multiple neurofibromas, café-au-lait macules, axillary freckling, and Lisch nodules.
Nazneen Zulfikar Arsiwala +2 more
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Clinical and genetic characteristics of ectodermal dysplasia in four Indian children
Indian Journal of Dermatology, 2022 Introduction: Ectodermal dysplasias (EDs) affect structures derived from the ectoderm such as skin, its appendages, nail, and teeth. In this series, we describe four patients presenting with a clinical phenotype of dysplasia of one or more ectodermal ...
Divya Kamat +7 more
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