Results 41 to 50 of about 1,614 (134)

Rare ocular manifestations in keratosis follicularis (Darier–White disease)

Indian Journal of Ophthalmology, 2017
Keratosis follicularis (Darier's disease) is a rare (1 in 30,000–100,000) genetic autosomal-dominant predominantly dermatological disorder characterized by hyperkeratosis and acantholysis due to a defective calcium transport in the cells. Ocular findings,
Savitha H Kanakpur, Divya Upendra Caculo
doaj   +1 more source

Biomolecular Changes Upon Ablative Laser Therapy of the Skin: A Scoping Review

International Journal of Dermatology, EarlyView.
(Fractional) ablative laser therapy results in a wound healing response characterized by an inflammatory phase, dermal matrix degradation, and remodeling, collagenesis and elastogenesis. This is characterized by an increase in metalloproteinases, collagen type I, III, VII, and tropoelastin.
Marie‐Eline Pauline Henriette Debeuf, Maartje Hendrika Pieternel Rauwenhoff, Michel van Geel, Peter Martin Steijlen, Valerie Lydie Roland Marc Verstraeten   +4 more
wiley   +1 more source

Molecular Changes Induced by Carbon Dioxide Laser in Hailey‐Hailey Disease: A Potential Mechanism Underlying Treatment Efficacy

International Journal of Dermatology, EarlyView.
ABSTRACT Introduction Hailey‐Hailey disease (HHD) is a rare genodermatosis caused by mutations in the ATP2C1 gene that codes for SPCA1, a calcium transporter in the epidermis. HHD impairs quality of life, and no curative treatment exists. Methods To confirm the efficacy and safety of CO2 laser in HHD, we conducted a randomized, prospective, controlled ...
Javier Antoñanzas, Agustín España, Ana Gorostidi, Ana Patiño‐García, Marcos J. Araúzo‐Bravo, Daniela Gerovska, Rafael Salido‐Vallejo, Leyre Aguado‐Gil   +7 more
wiley   +1 more source

Dermatology 2.0: Precision medicine for inflammatory skin diseases

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Digital immune mapping of transcriptomics profiles from inflammatory skin disease biopsies enables precise molecular diagnosis, quantification of immune modules and personalized therapy selection by matching dominant immune signatures to targeted treatments.
Jeremy Di Domizio, Antoine Girardin, Curdin Conrad, Teofila Seremet, Michel Gilliet   +4 more
wiley   +1 more source

Omalizumab for Pediatric Cutaneous Mastocytosis: Case Report and Review

Pediatric Dermatology, EarlyView.
ABSTRACT We report an 11‐month‐old boy with diffuse cutaneous mastocytosis whose severe pruritus and steroid dependence resolved following off‐label treatment with omalizumab. A literature review identified five additional pediatric cases in which omalizumab led to complete symptom resolution in an average of 2 months and permitted discontinuation of ...
Janis Chang, Aliyah King, Adam Byrne, Carmen Liy‐Wong   +3 more
wiley   +1 more source

Mimicking Darier Disease In Vitro: A Human Epidermal Organoid Approach

Experimental Dermatology, Volume 34, Issue 12, December 2025.
ABSTRACT Darier disease (DD) is a rare genetic disorder caused by mutations in the ATP2A2 gene, resulting in calcium dysregulation and impaired keratinocyte adhesion. Due to the paucity of suitable models, understanding the molecular mechanisms of DD has been challenging.
Rishika Agarwal, Erika Parente, Simon M. Müller, Elisabeth A. Kappos, Tanja Dittmar, Michael Kunz, Roni P. Dodiuk‐Gad, Nisim Asayag, Johann E. Gudjonsson, Beda Mühleisen, Emmanuel Contassot, Alexander A. Navarini   +11 more
wiley   +1 more source

Defining the interactome of the pancreas‐specific SPCA2 isoform (SPCA2C) identifies unique links to store‐operated Ca2+ entry

The FEBS Journal, Volume 292, Issue 24, Page 6644-6669, December 2025.
A BioID screen identified interacting proteins for secretory pathway calcium (Ca2+) ATPase 2C (SPCA2C) and showed new links to store‐operated Ca2+ entry. Interactions between SPCA2C and Orai1 were confirmed, along with newly identified interactions with STIM1 and CCDC47.
Petra Samardzija, Melissa A. Fenech, Oneeb Hassan, Ryann Lang, McKenzie C. Carter, Stephanie Chen, Selina Shi, Rithwik Ramachandran, Peter B. Stathopulos, Christopher L. Pin   +9 more
wiley   +1 more source

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

Prevalence, Age of Onset, Age at Diagnosis, and Family History of Hidradenitis Suppurativa in Pediatric Populations: A Systematic Review and Meta‐Analysis

Pediatric Dermatology, Volume 42, Issue 6, Page 1142-1148, November/December 2025.
ABSTRACT Introduction Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition characterized by recurrent nodules and abscesses in intertriginous areas, ultimately resulting in scarring and formation of sinus tracts. HS significantly impacts quality of life and can also affect pediatric populations.
Grace Xiong, Mohamed Ali, Erfan Ghani Kakhki, Annie Xiong, Raed Alhusayen, David Croitoru, Cathryn Sibbald, Vincent Piguet, Ilya Mukovozov   +8 more
wiley   +1 more source

ALA-PDT combined with 2940 nm ablative fractional Er:YAG laser for Darier's disease

Photodiagnosis and Photodynamic Therapy
Darier's disease is a rare, genetically determined dyskeratotic skin disorder. Although many conventional treatments have been reported, management of Darier's disease remains challenging.
Tingting Gao, Junyan Xiao, Na Pan, Fan Xia, Xianyu Zeng, Li Qin   +5 more
doaj   +1 more source