Results 31 to 40 of about 617 (149)

Basal Cell Carcinoma in Type 2 Segmental Darier's Disease

Journal of Skin Cancer, 2012
Background. Darier's disease (DD), also known as Keratosis Follicularis or Darier-White disease, is a rare disorder of keratinization. DD can present as a generalized autosomal dominant condition as well as a localized or segmental postzygotic condition (
Lynne Robertson, Maxwell B. Sauder
doaj   +1 more source

Queratose folicular espinulosa decalvante: relato de caso Keratosis follicularis spinulosa decalvans: case report

Anais Brasileiros de Dermatologia, 2010
A queratose folicular espinulosa decalvante é afecção rara, de transmissão genética ligada ao X ou esporádica, caracterizada por hiperqueratose folicular e alopecia cicatricial. Inicia-se, geralmente, na primeira infância, exacerbando-se na adolescência.
Alceu L. C. V. Berbert, Sônia A. O. Mantese, Ademir Rocha, Cláudia P. Cherin, Carolina M. Couto   +4 more
doaj   +1 more source

Contribuição ao estudo das doenças hereditárias

Memorias do Instituto Oswaldo Cruz, 1945
Em revisão de conhecimentos sobre doenças hereditárias foi verificada em várias dessas heredopatias (anemia de hemátias em alvo, icterícia hemolítica heredo-familiar. anemia ovalocítica, anemia perniciosa de BIERMER, trombopatia constitucional, distrofia
Ernani Martins da Silva
doaj   +1 more source

Dermoscopy as a Noninvasive Diagnostic Tool for Hailey-Hailey Disease and Darier Disease

Dermatology and Therapy, 2023
Introduction Hailey-Hailey disease (HHD) and Darier disease (DD) are rare genetic disorders for which differential diagnosis, especially in less obvious cases, can be difficult.
Marta Kurzeja, Adriana Rakowska, Magdalena Jasinska, Olga Warszawik-Hendzel, Małgorzata Olszewska, Lidia Rudnicka   +5 more
doaj   +1 more source

Jadassohn-Lewandowsky syndrome. Report of the first pediatric case in Cuba

Medisur, 2023
Jadassohn-Lewandowsky syndrome or congenital pachyonychia type 1 belongs to the rare diseases’ group. Worldwide, less than a thousand cases have been described to date and the one that is now published constitutes the first pediatric age report in Cuba ...
Migdalis Hidalgo Muñiz, Aracelis Hernández García, Andrés Andrés Matos, Yadelis Maldonado Martínez   +3 more
doaj  

Darier’s Disease: Report of a Case with Facial Involvement

Case Reports in Dermatology, 2019
Darier’s disease is a relatively rare autosomal dominant genodermatosis with a defect in the desmosomal attachment due to a mutation in the ATP2A2 gene.
Chaninan Kositkuljorn, Poonkiat Suchonwanit   +1 more
doaj   +1 more source

Spectrum of features in Darier’s disease: A case report with emphasis on differential diagnosis

Journal of Oral Biology and Craniofacial Research, 2019
Oral genodermatoses includes a spectrum of inherited dermatological disorders with varying oral mucosal manifestations. Darier’s disease is an autosomal dominant disorder with defect in desmosomal attachment.
Shwetha V, Sujatha S, Yashoda Devi B K, Rakesh N, Pavan kumar T, Priyadharshini R, Yashaswi Krishnamurthy   +6 more
doaj   +1 more source

Genodermatoses

Journal of Pharmacy and Bioallied Sciences, 2015
Genodermatoses are an inherited disorder, present with multisystem involvement. Help us to identify regular mutations and appalling skin diseases with recessive inheritance.
N Aravindha Babu, E Rajesh, Jayasri Krupaa, G Gnananandar   +3 more
doaj   +1 more source

Erythromelanosis follicularis faciei et colli - A cross-sectional, descriptive study

Indian Journal of Dermatology, 2016
Background: Erythromelanosis follicularis faciei et colli (EFFC) has always been reported as a rare disorder, and more data are needed to define its etiology and epidemiology.
Shagufta Rather, Atiya Yaseen, Mani Mukhija   +2 more
doaj   +1 more source

Keratosis follicularis (Darier disease) - clinical characteristics and treatment - a review and update. [PDF]

Postepy Dermatol Alergol, 2023
Chyl-Surdacka K, Borzęcki A, Latifa J, Turska-Kozłowska M, Majchrzycka M.   +4 more
europepmc   +1 more source