2,502 results match your criteria: "Acrokeratosis Verruciformis of Hopf"
Qualitative evidence on EQ-5D-5L skin irritation and self-confidence bolt-ons in Darier's disease and Hailey-Hailey disease.
Qual Life Res
December 2024
Department of Health Policy, Corvinus University of Budapest, 8 Fővám Square, Budapest, Hungary, 1093.
Objectives: Limited evidence is available about the content validity of the EQ-5D-5L in rare skin fragility disorders. Previous research has demonstrated that the skin irritation and self-confidence additional dimensions (bolt-ons) improve the content validity of the EQ-5D-5L in psoriasis and atopic dermatitis. Our aim was to investigate the content validity of the EQ-5D-5L and the two bolt-ons in Darier's disease and Hailey-Hailey disease.
View Article and Find Full Text PDFPatients with Darier disease have an increased risk of keratinocyte carcinoma: a Swedish registry-based nationwide cohort study.
Orphanet J Rare Dis
December 2024
Department of Dermatology and Venereology, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gröna stråket 16, Gothenburg, SE-413 45, Sweden.
Background: Darier disease is a genodermatosis which manifests as hyperkeratotic papules and superficial erosions mainly in seborrheic skin areas. This retrospective registry-based cohort study aimed to estimate the association between Darier disease and skin cancer.
Results: Patients diagnosed with Darier disease were identified from the patient registry of Sahlgrenska University Hospital (Gothenburg, Sweden) in 2016-2020.
Combined Abrocitinib and Acitretin Therapy for Darier's Disease: A Case Report.
Clin Cosmet Investig Dermatol
December 2024
Institute of Dermatology, Guangzhou Medical University, Guangzhou, Guangdong, 510095, People's Republic of China.
Darier's disease (DD) is a rare chronic keratinizing skin disease characterized by dyskeratosis of epidermal cells. We report a case of DD with a medical history spanning over 20 years and recurring symptoms. Pathologically confirmed DD was treated with a combination of abrocitinib and acitretin, resulting in rapid symptom resolution within 2 weeks.
View Article and Find Full Text PDFDarier disease: Current insights and challenges in pathogenesis and management.
J Eur Acad Dermatol Venereol
November 2024
Department of Dermatology and Venereology, Kepler University Hospital Linz, Linz, Austria.
Darier disease is a rare autosomal dominant genodermatosis caused by mutations in the ATP2A2 gene encoding for sarcoendoplasmic reticulum Ca ATPase isoform 2. The skin disease is characterized by a chronic relapsing course with recurrent reddish-brown keratotic papules and plaques located mainly in seborrhoeic areas. Due to chronic inflammation and epidermal barrier defects of the skin, patients often develop severe bacterial and viral superinfections.
View Article and Find Full Text PDFA Rare Case of Darier Disease Flaring Up During Pregnancy.
Cureus
October 2024
Obstetrics and Gynaecology, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.
Article Synopsis
Segmental Darier's Disease Treated With Cryotherapy.
Cureus
October 2024
Dermatology, Lehigh Valley Health Network, Allentown, USA.
Darier's disease is characterized by pruritic keratotic papules resulting from dysfunctional keratinocyte adhesion. Segmental Darier's is a rare variant thought to be caused by a post-zygotic somatic mutation. The mainstay of treatment consists of oral and topical retinoids and corticosteroids.
View Article and Find Full Text PDFA novel ATP2A2 mutation in Darier and genotype phenotype: correlation analysis.
Genes Genomics
November 2024
North China University of Science and Technology Affiliated Hospital, Tangshan, 063000, Hebei, China.
Background: Darier's disease (DD) is a skin disorder caused by mutations in the ATP2A2 gene. Researchers have been investigating the correlation between genotype and phenotype in DD. Understanding the genotype-phenotype relationship in DD can enhance our comprehension of the genetic background and phenotypic characteristics of the condition, as well as the relationship between its systemic and localized manifestations.
View Article and Find Full Text PDFClearance of Darier disease lesions in a patient with concomitant atopic dermatitis treated with abrocitinib.
J Eur Acad Dermatol Venereol
October 2024
Dermatology Unit, IRCCS Humanitas Research Hospital, Milan, Italy.
Microbial imbalance in Darier disease: Dominance of various staphylococcal species and absence of Cutibacteria.
Sci Rep
October 2024
Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 41 Mária Street, Budapest, 1085, Hungary.
Darier disease (DD) is a rare autosomal dominant genodermatosis characterized by erythematous papules and plaques mainly involving sebaceous areas, such as the face, chest and back. Skin microbiome plays an essential role in maintaining skin homeostasis. A disturbed skin microbiome may contribute to the exacerbation of DD.
View Article and Find Full Text PDFDermoscopic Features of Pili Annulati: Features of PA.
Skin Res Technol
October 2024
Tianjin Children's Hospital/Children's Hospital, Tianjin University, Tianjin, China.
A Case of Darier Disease Treated With a Dye Laser.
Skin Res Technol
October 2024
Unit of Dermatology, University of Campania "Luigi Vanvitelli", Naples, Italy.
ERK hyperactivation in epidermal keratinocytes impairs intercellular adhesion and drives Grover disease pathology.
JCI Insight
November 2024
Department of Dermatology, University of Michigan, Ann Arbor, Michigan, USA.
Article Synopsis
- Grover disease is a skin condition characterized by blistering caused by the breakdown of connections between skin cells, with its causes still unknown and no FDA-approved treatment available.
- Research has shown that B-RAF inhibitors used in cancer treatment can paradoxically lead to Grover disease by causing hyperactivation of ERK, which disrupts skin cell cohesion.
- The study suggests that inhibiting MEK can prevent the onset of Grover disease by controlling ERK activation, indicating a potential therapeutic approach that could benefit both Grover disease and similar genetic conditions like Darier disease.
A case of Darier's disease with a missense mutation in exon 8 of ATP2A2.
J Dermatol
September 2024
Department of Dermatology, The University of Tokyo Graduate School of Medicine, Tokyo, Japan.
Folliculocentric tinea versicolor: a case report.
J Med Case Rep
September 2024
Department of Dermatology, Wuhan No. 1 Hospital, Wuhan, 430022, China.
Article Synopsis
- Tinea versicolor is a common skin condition, and this report focuses on a unique follicular form observed in a patient with a past of keratosis pilaris.
- A 46-year-old Asian woman presented with light brown patches on her trunk and axillae, which were diagnosed as folliculocentric tinea versicolor through clinical examination and microscopic analysis.
- The case suggests a potential link between previous keratosis pilaris and the development of follicular tinea versicolor, although the exact causes of this form remain uncertain.
The use of photodynamic therapy in the management of darier disease and Hailey-Hailey disease: a systematic review.
Arch Dermatol Res
September 2024
Department of Dermatology, The Ohio State University Wexner Medical Center, Columbus, OH, 43210, USA.
Article Synopsis
- Darier disease and Hailey-Hailey disease are rare skin conditions that can make life tough for people who have them, and there are no effective long-term treatments available right now.
- Doctors often use oral and topical retinoids to help manage symptoms, but these can have bad side effects that make it hard for patients to stick with treatment.
- A study looked into a new treatment called photodynamic therapy (PDT), which showed promise in helping with symptoms, but more research is needed to fully understand its benefits, costs, and safety for everyone.
Pumping the Breaks on Acantholytic Skin Disorders: Targeting Calcium Pumps, Desmosomes, and Downstream Signaling in Darier, Hailey-Hailey, and Grover Disease.
J Invest Dermatol
August 2024
Department of Dermatology, University of Washington, Seattle, Washington, USA; Institute for Stem Cell & Regenerative Medicine, University of Washington, Seattle, Washington, USA. Electronic address:
Article Synopsis
- * Genetic forms of these disorders, like Darier and Hailey-Hailey diseases, stem from mutations affecting calcium pumps but lack a clear connection between these mutations and the breakdown of cell adhesion.
- * The article reviews existing knowledge about these conditions and emphasizes research gaps, aiming to stimulate investigations that could lead to new treatments for affected patients suffering from chronic skin issues.
Efficacy and safety of non-cross-linked hyaluronic acid compound in the treatment of keratosis pilaris: A split-body randomized clinical trial.
J Cosmet Dermatol
December 2024
Department of Plastic and Reconstructive Surgery, Guangdong Second Provincial General Hospital, Guangzhou, Guangdong, China.
Article Synopsis
- Keratosis pilaris (KP) is a common and harmless skin condition causing small bumps and redness, affecting people's appearance and mental health.
- A clinical trial tested a non-cross-linked hyaluronic acid (HA) treatment for KP, where injections were given in four sessions over 24 weeks, and both doctors and patients evaluated the results.
- Results showed significant improvements in skin roughness and redness for treated areas, with many patients reporting sustained benefits, indicating the HA treatment is effective and safe for managing KP.
Acantholytic Dyskeratoses of the Vulva: Clinicopathologic Characterization of 16 Cases and Review of the Literature.
Int J Gynecol Pathol
August 2024
Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, Michigan.
Article Synopsis
- The study focuses on vulvar acantholytic dyskeratoses, which are rare skin conditions affecting the vulva and perineum, with a goal to improve classification and understanding for gynecologic pathologists.
- Between 1990 and 2023, 16 cases of vulvar acantholytic dyskeratoses were analyzed, mostly affecting women aged 36 to 79, with many presenting asymptomatic or pruritic lesions predominantly on the labia majora.
- Histologically, these conditions showed features like acantholysis, with some patients responding to local excision or corticosteroids; however, no clear distinction was found between sporadic and syndromic cases based on
Successful Treatment of Darier-White Disease with Ablative Fractional Carbon Dioxide Laser.
Clin Exp Dermatol
August 2024
Department of Dermatology, Southmead Hospital, North Bristol NHS Trust, Bristol, UK.
Acitretin induced primary hypothyroidism in Darier's disease: A rare case report.
Indian J Pharmacol
May 2024
Department of Pathology, Bangalore Baptist Hospital, Bengaluru, Karnataka, India.
Article Synopsis
- A case study of a 41-year-old male with DD revealed that he developed hypothyroidism after starting acitretin, which is a rare side effect.
- Despite initially benefiting from the treatment, acitretin was discontinued due to side effects, highlighting the need for regular blood monitoring during its use.
Dantrolene corrects cellular disease features of Darier disease and may be a novel treatment.
EMBO Mol Med
September 2024
Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden.
Article Synopsis
- - Darier disease (DD) is a rare skin disorder caused by mutations in the ATP2A2 gene, which is essential for maintaining calcium balance in cells.
- - Current research has shown that dantrolene sodium (Dl), a drug that typically treats other conditions, can increase calcium levels in the endoplasmic reticulum and improve cell adhesion in DD cells.
- - The study indicates that Dl could help alleviate key issues related to DD by reducing endoplasmic reticulum stress and preventing cell death, suggesting it might be a viable treatment option for the disease.
Favorable Response to Type 2 Inhibitors in Patients With Darier Disease.
JAMA Dermatol
September 2024
Division of Dermatology, Department of Medicine, McGill University Health Centre, Montréal, Québec, Canada.
Successful treatment of Darier's disease with apremilast and review of reported cases.
J Dermatol
July 2024
Department of Dermatology, Tohoku University Graduate School of Medicine, Sendai, Japan.
Article Synopsis
- Darier's disease (DD) is a rare genetic disorder linked to ATP2A2 mutations, resulting in skin issues like red or brown hyperkeratotic lesions.
- The report details a case in Japan where an 18-year-old female with no family history of DD was successfully treated with apremilast after exome sequencing confirmed her diagnosis.
- After eight weeks of treatment, her skin lesions showed significant improvement, highlighting the potential of apremilast for treating similar skin disorders like Hailey-Hailey disease (HHD).
Treatment of Darier Disease with Radiation Therapy: Case Report and Literature Review.
Clin Cosmet Investig Dermatol
July 2024
Department of Dermatology, Hospital for Skin Diseases, Shandong First Medical University, Jinan, 250022, People's Republic of China.
Article Synopsis
- Darier's disease (DD) is a genetic skin condition marked by hard, scaly bumps with no effective cure, leaving only symptom-targeting treatments available.
- A case study showed that low-dose superficial X-ray radiotherapy (SRT) significantly improved a severe case of DD that didn’t respond to regular medications.
- The use of low-dose radiation may be a safer initial option for treating stubborn DD, but if stronger doses are needed, careful assessment of the risks, including potential radiation-related cancer, should be discussed with patients.
Darier-Roussy Subcutaneous Sarcoidosis Masquerading as Multiple Abscesses: A Report of a Rare Case.
Cureus
June 2024
Rheumatology and Immunology Unit, Department of Internal Medicine, Faculty of Medicine, Mansoura University, Mansoura, EGY.
Article Synopsis
- - Sarcoidosis is an unknown cause, multi-organ disease primarily impacting the lungs, and Darier-Roussy subcutaneous sarcoidosis is a rare skin manifestation that can mimic abscesses.
- - A case study involved a 65-year-old female with multiple deep skin lesions, inflammation, and joint pain, initially treated as abscesses but unresponsive to antibiotics.
- - Diagnosis was confirmed through a CT scan revealing lymphadenopathy and a skin biopsy showing sarcoidosis traits; treatment included hydroxychloroquine and tapering prednisone, highlighting the need to consider subcutaneous sarcoidosis in similar cases.