Results 91 to 100 of about 9,158,896 (219)
Novel Point Mutations of the ATP2A2 Gene in Two Chinese Families with Darier Disease [PDF]
, 2001 Yong Yang +3 more
openalex +2 more sources
Darier-White disease of the vulva. Presentation of a patient
Acta Médica del Centro, 2014 The Darier-White disease is an uncommon genodematoses, the transmisision of autosomal dominant, characterized by lesions involving papulokeratosic mucosal and nails; may appear papules on the vulva, specifically.
Mabel González Escudero +2 more
doaj
Pioneers in Dermatology and Venereology: An interview with Professor Dan Lipsker
Journal of the European Academy of Dermatology and Venereology, Volume 39, Issue 11, Page 1878-1880, November 2025.
Dan Lipsker
wiley +1 more source
Topographical variations in the skin barrier and their role in disease pathogenesis
Journal of the European Academy of Dermatology and Venereology, Volume 39, Issue 7, Page 1228-1238, July 2025.Unlike the gut, the skin appears uniform at first glance. However, histological and molecular biological research has revealed significant regional variations in the composition and function of its main barrier elements. In this review, we describe the topographical differences of four barrier elements in healthy skin: microbiome, chemical, physical ...
Z. Dajnoki +5 more
wiley +1 more source
Guttate hypopigmentation in Darier disease: A rare presentation
Pigment InternationalDarier disease (DD) is an autosomal dominant genodermatosis attributed to ATP2A2 gene mutation which encodes the sarco/endoplasmic reticulum Ca2+ATPase isoform 2.
Aradhana Rout +2 more
doaj +1 more source
Cutaneous Mastocytosis in Pediatric Patients With Skin of Color: A Retrospective Cohort Study
Pediatric Dermatology, Volume 42, Issue 4, Page 793-795, July/August 2025.ABSTRACT Cutaneous mastocytosis (CM) is a rare skin disease with limited data on its prevalence across different racial groups. This retrospective cohort study examines the characteristics of CM at Nationwide Children's Hospital (NCH) from January 2010 to June 2022, identifying 192 confirmed cases of CM and further stratifying this cohort to 155 ...
Trent D. Walker +4 more
wiley +1 more source
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
doaj +1 more source
Ichthyosis Prematurity Syndrome: A Systematic Review of the Literature
Pediatric Dermatology, Volume 42, Issue 4, Page 747-753, July/August 2025.ABSTRACT Background/Objectives Ichthyosis prematurity syndrome (IPS) is a rare autosomal recessive congenital disorder characterized by premature birth, neonatal respiratory distress, eosinophilia, and a thick, clay‐like vernix at birth. This review aims to summarize the available reported cases of IPS, including genetic etiology, clinical features ...
Grace X. Li +3 more
wiley +1 more source
A Review of Hand Eczema Subtypes: Clinical Features, Biomarkers and Treatment Strategies
Contact Dermatitis, Volume 92, Issue 6, Page 421-435, June 2025.ABSTRACT Hand eczema is a common dermatological condition that significantly impairs quality of life. The classification of hand eczema has been considered an essential step for its management. The diagnosis of hand eczema relies on the aetiological and clinical features of hand lesions, a process complicated by the heterogeneous presentations and the ...
David Pesqué +5 more
wiley +1 more source
Extensive Darier Disease Successfully Treated with Doxycycline Monotherapy
Case Reports in Dermatology, 2015 Darier disease (DD) is a rare dominantly inherited genodermatosis characterized by loss of intercellular adhesion (acantholysis) and abnormal keratinization. DD is often difficult to manage. Numerous treatments have reportedly been used for the treatment
Alicia Sfecci +4 more
doaj +1 more source