A Case of Darier’s Disease with a Novel Missense Mutation in ATP2A2 Successfully Treated with Calcipotriol/Betamethasone Dipropionate Two-Compound Ointment

Hagino, Teppei; Nakano, Hajime; Saeki, Hidehisa; Kanda, Naoko

doi:10.2147/ccid.s354694

Cited by 2 publications

(2 citation statements)

References 24 publications

(32 reference statements)

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“…Besides the bumpy marks on the top of their hands and feet and holes on their palms and under their nails, you might also watch rough bumps in oily or hidden areas on their skin. The current situation only slightly showed these conclusions (4).…”

Section: Discussionmentioning

confidence: 63%

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Darier Disease: Case Report

2024

The Egyptian Journal of Hospital Medicine

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Background: A change in a gene called Ca 2+-ATPase type 2, which controls the movement of calcium in the endoplasmic reticulum, causes Darier disease. Darier disease is a rare skin condition that affects how cells stick together. Also, this illness gets worse with heat and exposure to the sun, sweating, and rubbing, and it is characterized by many bumpy, greasy spots with an oily skin distribution. Sometimes, it can also harm the mucosa (the lining inside our body) and cause our nails to grow strangely. There is a special type of Darier disease called unilateral segmental Darier disease. It causes red, scaly bumps to appear on one side of the body and they are not related to any other illnesses. Objective: To show an example of a person with Darier's disease. Also, to talks about the main characteristics and the treatments that are available. Subject and methods: A case report. Results: 51 years old male patient presented with multiple red to brown hyperkeratotic papules coalesce into plaque and led to thickened skin affecting the face, trunk, axilla and dorsa of both upper and lower extremities. Histopathology, there was hyperkeratosis, acanthosis, and papillomatosis. Supra basal acantholytic blister containing acantholytic cells, some of them showed Evidence of dyskeratosis. Corps ronds are present in the uppermost layer, especially the granular layer. Grains are present within the horney layer. No signs of malignancy or granuloma. Conclusion: Because there are no confirmed ways to cure DD, it is hard to treat. There are many different ways to treat this problem, like using special creams or medications, having surgery, or using lasers. But these treatments don't work very well and only help a little bit. It is important to ensure a multidisciplinary approach in the management of patients with Darier's disease because systemic retinoids have shown to be more effective in achieving some reduction of symptoms in 90% of patients. Isotretinoin was used in our patient with a good outcome because it reduces hyperkeratosis, smoothens papules, and reduces odour.

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Section: Discussionmentioning

confidence: 63%

“…Between 1 in every 30,000 to 100,000 people will be affected by Darier disease. It is a skin condition that passes down through genes and does not favor any specific gender (4).…”

Section: Discussionmentioning

confidence: 99%

Darier Disease: Case Report

2024

The Egyptian Journal of Hospital Medicine

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Darier disease: Current insights and challenges in pathogenesis and management

Ettinger,

Kimeswenger,

Deli

et al. 2024

Acad Dermatol Venereol

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Darier disease is a rare autosomal dominant genodermatosis caused by mutations in the ATP2A2 gene encoding for sarcoendoplasmic reticulum Ca2+ 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. Therapeutic options are limited, mainly symptomatic and in most cases unsatisfactory in the long term. Patients are advised to avoid aggravating factors such as high temperature, high humidity, UV radiation and mechanical irritation. To prevent superinfection, antiseptics and periodic use of topical corticosteroids are fundamental in treatment. In case of bacterial and viral superinfection, systemic anti‐infective therapy is often necessary. Currently, the most effective treatment option for extensive and persistent skin lesions is systemic retinoids, which are thought to mainly target the epidermal compartment (e.g. by reducing hyperkeratosis). One hallmark of Darier disease patients is chronic skin inflammation. We and others have previously reported Th17 cells in the dermal infiltrate of inflamed Darier disease skin. Counteracting inflammation by blocking the IL‐23/IL‐17 axis improved skin manifestations in a small cohort of previously therapy‐resistant patients over 1 year. Furthermore, several other topical treatment options for mild disease as well as various ablative therapies and surgical excision have been proposed to be effective in some patients with hypertrophic skin lesions. This article aims to outline the pathogenesis, clinical features, diagnosis/differential diagnosis and available treatment modalities of Darier disease.

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A Case of Darier’s Disease with a Novel Missense Mutation in ATP2A2 Successfully Treated with Calcipotriol/Betamethasone Dipropionate Two-Compound Ointment

Cited by 2 publications

References 24 publications

Darier Disease: Case Report

Darier Disease: Case Report

Darier disease: Current insights and challenges in pathogenesis and management

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