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

Abstract

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.

Whole‐transcriptome sequencing identifies postzygotic ATP2A2 mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late‐onset segmental Darier disease

“…22 This type is often characterized by the lack of family history and other characteristic features related to the common form of DD, and the clinical manifestations of the disease can also occur at an older age. 23 Type 2 segmental DD usually has a family history of the disease, and the disease tends to be more severe and widespread. 22 It appears that our patient is in the category of type 1 segmental DD according to unilateral segmental pattern that follows the lines of Blaschko.…”

“…Type 1 segmental DD is a postzygotic mutation in ATP2A2 during embryogenesis, which leads to a mosaic pattern of skin involvement 22 . This type is often characterized by the lack of family history and other characteristic features related to the common form of DD, and the clinical manifestations of the disease can also occur at an older age 23 . Type 2 segmental DD usually has a family history of the disease, and the disease tends to be more severe and widespread 22 .…”

Photodermatoses in Childhood

“…Болезнь Дарье (син. : болезнь Дарье-Уайта) -генодерматоз, который обычно проявляется в течение первых двух десятилетий жизни с пиком заболеваемости в подростковом периоде [39]. Клинические характеристики болезни Дарье включают множественные кератотические папулы, которые могут сливаться в бляшки и локализуются в основном на себорейных зонах туловища, на коже волосистой части головы и в области лба (рис.…”

“…Клинические характеристики болезни Дарье включают множественные кератотические папулы, которые могут сливаться в бляшки и локализуются в основном на себорейных зонах туловища, на коже волосистой части головы и в области лба (рис. 4) [39]. Пеллагра, обусловленная клеточным дефицитом ниацина, характеризуется деменцией и диареей, а также симметрично локализованными высыпаниями на участках кожи, подвергшихся воздействию солнечного света [40].…”

Acral Hemorrhagic Darier’s Disease with Spontaneous Regression over time: A Case Report

“…The disease usually begins before the third decade of life with a peak in puberty (11-15 years old) 5,6 ;due to sweating ,sebum exertion or change in bacterial flora. 7 Diagnosis is confirmed by skin biopsy. Two prominent histologic findings in DD are supranasal acantholysis and dyskeratosis (corps ronds and grain) with hyperkeratosis.…”