Type one segmental Darier′s disease

Palanisamy, Arunprasath; Kandasamy, Subramaniam; Vadivel, Sivasubramanian; Kothandapany, Srivenkateswaran

doi:10.4103/2349-6029.173414

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2020

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“…However, it was believed to be caused by postzygotic somatic mutation in the ATP2A2 gene [ 5 , 6 ]. This variant is often characterized by the absence of a family history and other features associated with typical Darier disease [ 7 ]. Similar to cases recorded in the literature, our patient with type 1 segmental Darier disease presented with skin lesions confined to a specific area, and her family members did not have similar symptoms.…”

Section: Discussionmentioning

confidence: 99%

Type 1 Segmental Darier Disease: Case Report and Discussion of the Treatment Options

2020

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Darier disease is a rare type of autosomal dominant genodermatosis, and it is caused by a mutation in the gene coding for the endoplasmic reticulum membrane calcium pump Ca2+-ATPase type 2, leading to compromised intercellular adhesion. Moreover, this condition is characterized by multiple keratotic greasy papules with a seborrheic distribution and is worsened by heat and sun exposure, sweating, and friction. Occasionally, it may be associated with nail abnormalities and may involve the mucosa. Unilateral segmental Darier disease is a rare variant characterized by unilateral eruption of erythematic keratotic papules not associated with other conditions. Herein, we report a case of type 1 segmental Darier disease. Furthermore, the main characteristics and treatment options are discussed.

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Section: Discussionmentioning

confidence: 99%