Results 51 to 60 of about 207,711 (173)

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

Morbus Darier und Depression - besteht eine genetische Verbindung?: Übersicht und klinischer Fall [PDF]

, 2018
Zusammenfassung: Der Morbus Darier ist eine seltene Hauterkrankung, die autosomal-dominant vererbt wird und durch eine Mutation im SERCA (sarco/endoplasmatic reticulum calcium transporter)-2-Gen verursacht wird.
Bach, D., Moggi, F., Müller, T., Seifritz, E., Strik, W., Wirtz, G.   +5 more
core  

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, Vamsi Varra, Nana Fosu, Michela Paradiso, Joy Mosser‐Goldfarb   +4 more
wiley   +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, Kathryn Chen, Deshan F. Sebaratnam, James P. Pham   +3 more
wiley   +1 more source

Cloning, tissue expression, and mapping of a human photolyase homolog with similarity to plant blue-light receptors [PDF]

, 1996
Enzymatic photoreactivation is a DNA repair mechanism that removes UV- induced pyrimidine dimer lesions by action of a single enzyme, photolyase, and visible light.
Bootsma, D. (Dirk), Eker, A.P.M. (André), Kobayashi, K. (Kumiko), Spek, P.J. (Peter) van der, Takao, M. (Masashi), Yasui, A. (Akira)   +5 more
core   +1 more source

Mammary and extramammary Paget's disease [PDF]

, 2015
Paget's disease, described by Sir James Paget in 1874, is classified as mammary and extramammary. the mammary type is rare and often associated with intraductal cancer (93-100% of cases).
Enokihara, Mílvia Maria Simões e Silva, Lopes Filho, Lauro Lourival, Lopes, Ione Maria Ribeiro Soares, Lopes, Lauro Rodolpho Soares, Matsunaga, Nobuo, Michalany, Alexandre Osores   +5 more
core   +2 more sources

Papular acantholytic dyskeratosis of the genitocrural area with positive direct immunofluorescence in a man affected by lichen sclerosus et atrophicus: a clinicopathological challenge

Dermatology Reports
Dear Editor, Papular acantholytic dyskeratosis (PAD) is a rare, sporadic, persistent disease of adulthood, localized to the genitocrural and anogenital regions. It was proposed as a new entity by Chorzelski et al.
Diana Sacchi, Viviana Lora, Alessandra Latini, Monia Di Prete, Carlo Cota   +4 more
doaj   +1 more source

A world allergy organization international survey on diagnostic procedures and therapies in drug allergy/hypersensitivity. [PDF]

, 2013
RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'.
Bonadonna, Patrizia, Castells, Mariana, Demoly, Pascal, Diana, Deleanu, Kowalski, Marek, Lleonart, Ramon, Mirakian, Rita, Pichler, Werner, Romano, Antonino, Sanchez-Borges, Mario, Thong, Bernard Yu-Hor, Yanez, Anahi   +11 more
core   +2 more sources

A Rare Case of Prurigo Pigmentosa in Iranian Sibling Couple

Clinical Case Reports, Volume 13, Issue 1, January 2025.
ABSTRACT Prurigo Pigmentosa is a rare inflammatory skin disease of unknown origin, characterized by pruritic, erythematous papules on the chest, back, neck, and anterior abdomen. The eruption resolves with reticular hyperpigmentation that cosmetically affects the patient's quality of life.
Saman Al‐Zahawi, Fatemeh Saberi, Vahidesadat Azhari, Kambiz Kamyab, Kamran Balighi   +4 more
wiley   +1 more source

Paediatric cutaneous lymphomas including rare subtypes: A 40‐year experience at a tertiary referral centre

Journal of the European Academy of Dermatology and Venereology, Volume 39, Issue 1, Page 161-170, January 2025.
Abstract Background Primary cutaneous lymphomas are neoplasms of the immune system with a distinct tropism for the skin and an absence of extracutaneous manifestations at the time of diagnosis. Studies focusing on cutaneous lymphomas in children and adolescents remain scarce and often do not encompass the rare subtypes.
Silvia Alberti‐Violetti, Gianluca Avallone, Cristiana Colonna, Gianluca Tavoletti, Luigia Venegoni, Valentina Merlo, Stefano Cambiaghi, Angelo V. Marzano, Emilio Berti, Riccardo Cavalli   +9 more
wiley   +1 more source