Results 121 to 130 of about 4,843 (250)

Skin Diseases in Pediatric Patients Attending a Tertiary Dermatology Hospital in Northern Tanzania: A Cross-Sectional Study. [PDF]

Skin diseases affect 21-87 % of children in developing countries in Africa. However, the spectrum of the skin diseases varies from region to region due to several factors such as genetics, socioeconomic and environmental.
Kiprono, Samson K, Masenga, John E, Muchunu, Julia W   +2 more
core   +2 more sources

Progressive symmetrical erythrokeratoderma manifesting as harlequin-like ichthyosis with severe thrombocytopenia secondary to a homozygous 3-ketodihydrosphingosine reductase mutation

JAAD Case Reports, 2021
Lama Altawil, MD, Hind Alshihry, MD, Huda Alfaraidi, MD, Amal Alhashem, MD, Ahmed Alhumidi, MD, Fowzan S. Alkuraya, MD   +5 more
doaj   +1 more source

Genetic Diagnosis of Kindler Syndrome, a Rare form of Genodermatosis in a Newborn with Identification of a Nonsense Mutation, c. 328C > T, in the FERMT1 gene in the Indian population

, 2023
Afshan Srikumar, Chaitra Lava, Anuradha Udumudi   +2 more
openalex   +1 more source

Genodermatosis [PDF]

, 2020
openaire   +1 more source

Incontinentia Pigmenti: A Rare Genodermatosis in a Male Child [PDF]

, 2015
Dinesh Kumar Narayana Swamy
openalex   +1 more source

Rare Homozygous CTSC Deletion in Siblings with Papillon-Lefevre Syndrome: A Case Report

BioMed Target Journal
Papillon-Lefevre syndrome (PLS) is an extremely rare autosomal recessive genodermatosis caused by mutations in the cathepsin C (CTSC) gene. It is characterized by palmoplantar keratoderma (PPK), periodontopathy, intracranial calcifications, and recurrent
Fatima AlQaydi, Mohamed Ahmed
doaj   +1 more source

Eritroqueratodermia variabilis

Revista de la Asociación Colombiana de Dermatología y Cirugía Dermatológica, 2006
La eritroqueratodermia variabilis (OMIM 133200) es una genodermatosis rara descrita en Holanda a principios del siglo pasado, caracterizada por una distintiva combinación de dos aspectos morfológicos: máculas eritematosas migratorias y placas ...
Fabián Andrés Hernández Velasco, Germán Santacoloma Osorio   +1 more
doaj  

Clinical Classification of Mosaicism

JEADV Clinical Practice
The term ‘mosaic skin disorders’ encompasses conditions in which the skin is involved by mosaic mutations, including epidermal nevi, vascular nevi, connective tissue nevi and lipomatous nevi, among others.
Andrea Diociaiuti, Teresa Oranges, Eulalia Baselga, May El Hachem   +3 more
doaj   +1 more source

Intervención educativa para mejorar la calidad de vida de adolescentes con genodermatosis

, 2021
Yordania Velázquez Ávila, Zoybis De la Caridad Sariol Almaguer, Maritza Morales Solís   +2 more
openalex   +1 more source

Atención enfermera al paciente pediátrico con epidermolisis bullosa. Revisión bibliográfica [PDF]

, 2019
INTRODUCCIÓN. La epdiermólisis bullosa (EB) es una enfermedad de baja prevalencia, perteneciente a las genodermatosis de etiología genética, que se caracteriza por la deficiencia parcial o total de alguna de las proteínas que conforman los estratos ...
Blanco Asensio, Elena
core