Results 11 to 20 of about 5,681 (198)
Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management
Diagnostics, 2022 Eczema is a classical characteristic not only in atopic dermatitis but also in various genodermatosis. Patients suffering from primary immunodeficiency diseases such as hyper-immunoglobulin E syndromes, Wiskott-Aldrich syndrome, immune dysregulation ...
Chaolan Pan, Anqi Zhao, Ming Li
doaj +2 more sources
Darier disease: A rare genodermatosis
Journal of Oral and Maxillofacial Pathology, 2017 Darier disease (DD), also known as keratosis follicularis or dyskeratosis follicularis, is a rare autosomal dominant genodermatosis with high penetrance and variable expressivity. It is caused by mutations of ATP2A2 gene which encodes the sarco/endoplasmic reticulum Ca2+ ATPase isoform 2.
Suryawanshi, Hema +3 more
openaire +4 more sources
JEADV Clinical PracticeBackground Porokeratoses represent a group of keratinization disorders characterized histopathologically by the presence of a cornoid lamella. The recognition of porokeratosis as a genodermatosis, along with its association with increased risk of skin ...
Rahime Inci +5 more
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A Case Report of a Collodion Baby: An Autosomal Recessive Genodermatosis
Cureus, 2023 Congenital ichthyosis refers to various underlying genodermatoses that indicate prenatal epidermal abnormalities. Collodion babies are manifestations of rare congenital ichthyosis, comprising severe clinical complications that contribute to the risk of ...
Sabiha Quazi +3 more
semanticscholar +1 more source
Management of Upper Airway Infantile Hemangiomas: Experience of One Italian Multidisciplinary Center
Frontiers in Pediatrics, 2021 Airway infantile hemangiomas (IHs) can represent a life-threatening condition since the first months of life. They may be isolated or associated to cutaneous IHs, and/or part of PHACES syndrome.
Marialuisa Corbeddu +8 more
doaj +1 more source
Intractable & Rare Diseases Research, 2021 Xeroderma pigmentosum (XP) is a rare autosomal recessive disease characterized by hypersensitivity of the skin to ultraviolet radiation and other carcinogenic agents.
Renni Yuniati +6 more
semanticscholar +1 more source
A multicenter study on quality of life of the “greater patient” in congenital ichthyoses
Orphanet Journal of Rare Diseases, 2021 Background Autosomal recessive congenital ichthyoses (ARCI) are a genetically heterogeneous group of rare and chronic disorders characterized by generalized skin scaling and hyperkeratosis, erythroderma, and palmoplantar keratoderma.
Damiano Abeni +9 more
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A clinical case of familial enteropathic acrodermatitis caused by a new genetic mutation in exon 10 of the SLC39A4 gene [PDF]
Alʹmanah Kliničeskoj Mediciny, 2021 Enteropathic acrodermatitis is a rare form of genodermatoses, a group of hereditary disorders with prevailing skin lesions. The disease manifestation in children is associated with withdrawal of breastfeeding and switch to the cow milk-based products ...
Antonina S. Stadnikova +6 more
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Michelin tyre baby: A rare genodermatosis [PDF]
Indian Pediatrics, 2013 Dhulika, Dhingra +2 more
openaire +3 more sources