Darier disease is an autosomal dominant manner, with complete penetrance and variable expressivity. The condition is caused by mutations in the ATP2A2 gene, which encodes SERCA2. Family history is often overlooked due to subtle clinical presentations and presentation is common at around 20 years of age.

Case Report:This is the case of a 79-year-old elderly female who presented with a three year history of intensely pruritic erythematous hyperkeratotic papules on the face, trunk, and all extremities aggravated by heat and sweating. She reported of similar skin lesions seen on her father and brother, however they were undiagnosed and not treated. Multiple medications, including Prednisone, topical steroids, and antibiotics, provided temporary relief. Skin punch biopsy was done which revealed Acantholytic acanthoma consistent with Darier’s disease. CBC, SGPT, SGOT, Alkaline Phosphatase, BUN, Creatinine, Lipid Profile, FBS were requested and she was managed with topical corticosteroids, isotretinoin, Urea 10% lotion, and oral anti-histamines.

Darier disease is an autosomal dominant genodermatosis caused by mutations in the ATP2A2 gene, often presenting during puberty with chronic symptoms like hyperkeratotic lesions and nail abnormalities. Diagnosis relies on clinical and histopathologic correlation, aided by family history, though variable expressivity can complicate it. Coexisting infections must be evaluated due to potential morbidity. Treatment options include systemic retinoids, immunomodulators, and topical therapies like retinoids and calcineurin inhibitors. Personalized therapies have shown promise. Patient education on trigger avoidance and genetic counseling is crucial for managing recurrence risk, while life expectancy remains comparable to the general population.

Human ; Female ; Aged: 65-79 Yrs Old ; Darier Disease ; Keratosis Follicularis

Darier disease is an autosomal dominant skin condition characterized histologically by acantholysis due to mutations in the ATP2A2 gene. This commonly presents in seborrheic distribution as greasy, yellow-brown keratotic papules. Presenting a case of a 14-year-old male, who experienced progressive red to brown scaly rashes which started on the face progressing to the trunk and inguinal areas in a seborrheic distribution with nail brittleness. Treatment included topical corticosteroids and retinoids, leading to gradual improvement. Management emphasizes the importance of avoiding triggers and highlighting the significance of early intervention and eventual multidisciplinary support.

Human ; Bacteria ; Male ; Adolescent: 13-18 Yrs Old ; Darier Disease

Objective To investigate the clinicopathological characteristics of established genital and extragenital lichen sclerosus(LS)and compare the differences between them. Method The clinicopathological data of 55 patients with established genital and extragenital LS diagnosed by pathological examination in the Department of Dermatology of Beijing Hospital were retrospectively analyzed. Results The 55 patients included 11 males and 44 females.Among them,38,15,and 2 patients had genital lesions,extragenital lesions,and both genital and extragenital lesions,respectively.Extragenital LS mainly involved the back(14.55%)and extremities(7.27%).Among the patients,28.30% were asymptomatic,and 73.58% and 24.53% felt itchy and painful,respectively.The asymptomatic patients had a higher proportion in extragenital cases(
Darier Disease ; Extremities ; Female ; Genitalia ; Humans ; Lichen Sclerosus et Atrophicus/epidemiology* ; Male ; Retrospective Studies

OBJECTIVE: To explore the molecular basis for a pedigree affected with Darier-White disease. METHODS: Genomic DNA was isolated from 3 patients and 1 unaffected member from the pedigree, as well as 80 healthy controls. Targeted sequence capture and next-generation sequencing were used to screen mutations of skin disease-related genes. Candidate mutations were verified by Sanger sequencing, and co-segregation analysis was carried out to confirm the pathogenicity of mutation. Conservation analysis and protein structure and function were also predicted with Bioinformatic tools. RESULTS: A heterozygous mutation c.2246G>T (p.G749V) was identified in exon 15 of ATP2A2 gene in all 3 patients from the pedigree, but not in the unaffected member or 80 healthy controls. The corresponding amino acid was highly conserved, and mutation of which can lead to structural and functional changes of the protein. CONCLUSION The c.2246G>T missense mutation of the ATP2A2 gene probably underlies the Darier-White disease in this pedigree by causing damages to the structure and function of sarcoplasmic/endoplasmic reticulum calcium ATPase 2 (SERCA2).
Darier Disease ; genetics ; Heterozygote ; Humans ; Mutation, Missense ; Pedigree ; Sarcoplasmic Reticulum Calcium-Transporting ATPases ; genetics

BACKGROUND: Kaposi varicelliform eruption (KVE) is a disseminated viral infection primarily caused by the herpes simplex virus in the setting of an underlying chronic skin disease. Few studies have reported the clinical characteristics and predisposing factors for recurrent KVE.OBJECTIVES: To characterize the clinical features and predisposing factors for recurrent KVE.METHODS: This retrospective comparative study of recurrent vs. single-episode KVE was performed at the Pusan National University Hospital between 2004 and 2017.RESULTS: A total of 84 episodes occurred in 60 patients, and of these, 13 patients developed recurrence (21.7%). No statistically significant intergroup difference was observed in the mean age and sex distribution. The face was the most common site of involvement in both groups, followed by the trunk and the upper and lower extremities. Atopic dermatitis was the most common pre-existing disease in both groups; however, Darier's disease was more common in the recurrent KVE group, and this difference was statistically significant. Most patients with KVE (66.7%) showed aggravation of the underlying skin disease within 3 months of KVE onset. This finding was more prominent in patients with recurrent episodes (91.7%) than in those with single-episode KVE (58.3%), (p=0.040).CONCLUSION: This study can contribute to a better understanding of recurrent KVE and guide clinicians in treating patients with conditions predisposing to KVE.
Busan ; Causality ; Darier Disease ; Dermatitis, Atopic ; Humans ; Kaposi Varicelliform Eruption ; Lower Extremity ; Preexisting Condition Coverage ; Recurrence ; Retrospective Studies ; Sex Distribution ; Simplexvirus ; Skin Diseases

No abstract available.
Darier Disease* ; Minocycline* ; Tetracycline

No abstract available.
Darier Disease* ; Pityriasis*

Papular acantholytic dyskeratosis is a collection of papular skin lesions that occur in the intertriginous and genital area. They show a characteristic histology of focal suprabasal acantholysis that distinguishes it from Hailey-Hailey disease or Darier disease. We describe a 50-year-old man with an asymptomatic papular eruption on the perianal area for several years. Histologically, a biopsy specimen showed diffuse hyperkeratosis and irregular acantholysis throughout the epidermis. We used carbon dioxide laser therapy as a therapeutic option. Despite causing a long and painful healing process, a considerable reduction of the symptoms was achieved. Although we do not know the precise nature or the incidence of this disease, papular acantholytic dyskeratosis should be included in the differential diagnosis of verrucous papules in perineal or perianal areas and carbon dioxide laser may represent a good therapeutic option.
Acantholysis ; Biopsy ; Carbon Dioxide* ; Carbon* ; Darier Disease ; Diagnosis, Differential ; Epidermis ; Humans ; Incidence ; Lasers, Gas* ; Middle Aged ; Pemphigus, Benign Familial ; Skin

No abstract available.
Darier Disease*

OBJECTIVETo detect mutations of ATP2A2 gene in a pedigree and a sporadic case with Darier disease (DD) and explore the underlying molecular mechanism.

METHODSClinical data of the pedigree and the sporadic case were collected. Genomic DNA was extracted from blood samples of four members from the pedigree (including three patients and one healthy member), the sporadic case and 100 healthy controls. PCR was performed to amplify all coding exons of the ATP2A2 gene. And the products were directly sequenced to detect mutations.

RESULTSA missense mutation c.1484C>T (p.S495L) in exon 12 was detected in all patients of the pedigree. For the sporadic case, a novel splicing mutation c.325-2A>G was detected at the junction between intron 4 and exon 5. The same mutations were not found in the 100 healthy controls.

CONCLUSIONMutations of the ATP2A2 gene may lead to the occurrence of DD in both familial and sporadic cases with DD.

Aged ; Alternative Splicing ; genetics ; Base Sequence ; Child ; DNA Mutational Analysis ; Darier Disease ; genetics ; Family Health ; Female ; Genetic Predisposition to Disease ; genetics ; Humans ; Male ; Mutation, Missense ; Pedigree ; Point Mutation ; Sarcoplasmic Reticulum Calcium-Transporting ATPases ; genetics