Results 61 to 70 of about 14,871 (251)
Segmental Darier’s disease, a rare disorder of keratinization: a case report
MGM Journal of Medical Sciences, 2021 We present a case of Darier disease which is a rare autosomal-dominant genodermatosis. It is clinically manifested by hyperkeratotic papules primarily affecting seborrheic areas.
Abeer M Ilyas, Ujwala Maheswari
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Analysis of the human diseasome reveals phenotype modules across common, genetic, and infectious diseases [PDF]
, 2014 Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs
Gkoutos, Georgios V +2 more
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Darier-White disease in siblings responding to isotretinoin
Indian Dermatology Online Journal, 2010 Darier-White disease (keratosis follicularis) is a rare disorder of keratinization involving the epidermis, mucous membranes, and nails. It is said to occur as a result of mutation in the ATP2A2 gene located on chromosome 12q23-24.1.
Ramesh M Bhat +3 more
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X-linked genodermatoses from diagnosis to tailored therapy [PDF]
, 2023 Background: Genodermatoses are rare heterogeneous genetic skin diseases with multiorgan involvement. They severely impair an individual's well-being and can also lead to early death.
Bellinato, F +11 more
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Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants [PDF]
, 2021 journal ...
Akiyama, Masashi +4 more
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A Rare Clinical Presentation of Darier’s Disease
Case Reports in Dermatological Medicine, 2013 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.
Mybera Ferizi +4 more
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Caso para diagnóstico Case for diagnosis
Anais Brasileiros de Dermatologia, 2009 Queratose folicular espinulosa decalvante é uma genodermatose rara, ligada ao X, caracterizada por hiperqueratose folicular, fotofobia, alopécia cicatricial do couro cabeludo e supercílios. Descreve-se o caso de paciente do sexo feminino, de 25 anos, com
Carine Veloso de Carvalho +4 more
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Indian Journal of Paediatric Dermatology, 2017 Erythromelanosis follicularis faciei (EFF) is a rare sporadic condition of unclear etiology and is distinctive by well-demarcated reddish-brown patches and follicular papules that appear often on the face and seldom on the neck.
Ebtisam Elghblawi
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Darier′s disease - Oral, general and histopathological features in a 7 year old child
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2016 Darier′s disease, also known as keratosis follicularis, is a rare autosomal dominant genodermatosis, manifesting clinically as hyperkeratotic, firm papule that predominates in the seborrheic areas and flexures with accompanying nail abnormalities.
Sreedevi Dharman, Muthukrishnan Arvind
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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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