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http://dx.doi.org/10.1136/postgradmedj-2019-137290 | DOI Listing |
An Bras Dermatol
August 2022
Department of Pathology, Facultad de Medicina, Clínica Alemana, Universidad del Desarrollo, Santiago, Chile.
Darier disease is an uncommon autosomal dominant inherited disease, caused by a mutation in the ATP2A2 gene. The clinical findings are hyperkeratotic papules on the trunk, scalp, face, and neck, maceration of intertriginous areas, palmar pits, whitish papules on the oral mucosa and nail abnormalities. The main histopathologic findings are acantholysis and dyskeratotic keratinocytes.
View Article and Find Full Text PDFActa Dermatovenerol Croat
November 2021
Marta Navratil, MD, PhD, Department of Pulmonology, Allergology, Rheumatology and Clinical Immunology, Children's Hospital Zagreb, Klaićeva 16, 10000 Zagreb, Croatia;
Postgrad Med J
November 2020
Transfusion medicine, All India Institute of Medical Sciences, Rishikesh, India.
J Dermatol
November 2016
Department of Dermatology, Kawasaki Medical School, Kurashiki, Japan.
Sitosterolemia is a very rare autosomal recessive lipoprotein metabolic disorder caused by homozygous or compound heterozygous mutations in one of the two adenosine triphosphate-binding cassette transporter genes, ABCG5 and ABCG8. Sitosterolemia is clinically characterized by xanthomas and atherosclerosis, arthritis, fever, hemolysis and macrothrombocytopenia even in early childhood. We described a 16-month-old girl, who had numerous yellowish-brown intertriginous xanthomas along the skin creases on the extremities with severe hypercholesterolemia and elevated plant sterol levels.
View Article and Find Full Text PDFMycopathologia
February 2017
Department of Dermatology, University Hospital Centre, CHU du Sart Tilman, University of Liège, 4000, Liège, Belgium.
Human dermatophytic cutaneous infections usually present as single or multiple slowly progressing annular erythemato-squamous lesions with a tendency to central healing on the hairless skin. In the intertriginous regions (feet, inguinal, axillar, submammary), dermatophytic colonisations and infections manifest as whitish, slightly hyperkeratotic, pruritic and sometimes fissurated lesions. On the scalp, dermatophytic infections commonly lead to single or multiple more or less inflammatory and alopecic lesions.
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