Results 21 to 30 of about 617 (149)
A Rare Clinical Presentation of Intraoral Darier's Disease
Case Reports in Pathology, 2011 Darier's disease, also known as keratosis follicularis or dyskeratosis follicularis, is a rare disorder of keratinization. It is an autosomal dominant genodermatosis with high penetrance and variable expressivity.
K. G. D. Manoja +4 more
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Erythromelanosis Follicularis Faciei: A Case Report and Review of the Literature
Case Reports in Dermatology, 2015 Erythromelanosis follicularis faciei is a rare sporadic condition of unknown etiology characterized by reddish-brownish patches and follicular papules that appear commonly on the face and rarely on the neck.
Khalid Al Hawsawi +4 more
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Dermatology Online Journal, 2003 Keratosis follicularis is a genetic disorder that is inherited in an autosomal dominant pattern. Physical examination classically shows keratotic papules that are distributed mostly on the so-called "seborrheic" areas of the body. Nail involvement is not uncommon and is characterized by V-shaped nicking at the distal aspect of the nail bed ...
openaire +4 more sources
Frontiers in Endocrinology, 2023 Osteogenesis imperfecta (OI) is a heritable and chronically debilitating skeletal dysplasia. Patients with OI typically present with reduced bone mass, tendency for recurrent fractures, short stature and bowing deformities of the long bones.
Pei Jin Lim +7 more
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Frontiers in Genetics, 2021 Osteogenesis imperfecta (OI) is an inherited skeletal dysplasia characterized by low bone density, bone fragility and recurrent fractures. The characterization of its heterogeneous genetic basis has allowed the identification of novel players in bone ...
Pei Jin Lim +20 more
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Unilateral Darier’s disease – case report
Przegląd Dermatologiczny, 2017 Introduction . Darier’s disease (dyskeratosis follicularis, keratosis follicularis, Darier-White disease, Darier disease) is a rare genodermatosis inherited in autosomal dominant manner, caused by a mutation in the ATP2A2 gene located on chromosome 12 ...
Jolanta Węgłowska +2 more
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Darier's disease - response to oral Vitamin A: report of a case and brief review
Indian Dermatology Online Journal, 2020 Darier's disease is an uncommon chronic dermatosis of autosomal dominant inheritance with significant psychosocial morbidity and shows unsatisfactory response to several topical and systemic therapies or various resurfacing or surgical procedure.
Megha Sondhi +2 more
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Oral Warty Dyskeratoma—A Systematic Review of the Literature
Diagnostics, 2022 Objective: To systematically review the clinicopathological features of oral warty keratoma based on published literature. Materials and Methods: PubMed and Scopus databases were searched for reports of oral warty dyskeratoma.
A. Thirumal Raj +4 more
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Frontiers in Medicine, 2022 The patient was a 25-year-old man presented with cutaneous dirt-adherent disease with a past medical history of schizophrenia. Both the patient and his mother had Darier’s disease, genetic screening revealed that the patient carried a heterozygous ...
Qing Zhu +4 more
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Caso para diagnóstico Case for diagnosis
Anais Brasileiros de Dermatologia, 2010 Eritromelanose folicular faciei et colli é uma doença rara, de origem desconhecida, caracterizada por hiperpigmentação eritêmato-acastanhada e simétrica nas regiões frontal, temporal e malar, associada com envolvimento do folículo piloso.
Roberto Souto da Silva +2 more
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