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Purpose:
Darier's disease (DD) is a rare genetic skin disease, characterized by yellow-brown, scaly, crusted papules in seborrheic areas and specific nail changes. This study aimed to validate all first-time diagnoses of DD in Danish National Patient Registry (DNPR). The intent of the study is validation of DNPR for epidemiological and clinical st...
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Context 1
... is a secure web application for building and managing online surveys and databases. 13 The data extraction sheet is shown in Supplementary Table 1. Afterwards, the registry diagnoses were validated against the extracted data using predefined criteria (Table 1). ...Context 2
... The data extraction sheet is shown in Supplementary Table 1. Afterwards, the registry diagnoses were validated against the extracted data using predefined criteria (Table 1). Validation was defined with two levels of certainty as either "probable" or "confirmed", If the extracted data did not fulfill the criteria for either of these categories, the diagnosis was (categorized as) rejected. ...Context 3
... was defined with two levels of certainty as either "probable" or "confirmed", If the extracted data did not fulfill the criteria for either of these categories, the diagnosis was (categorized as) rejected. As can be seen Table 1, we considered a registry diagnosis of Darier's disease's to be "probable" when at least two of three of the following clinical findings were described: 1) characteristic skin lesions Darier's disease (yellow-brown, scaly, crusted papules), 2) characteristic anatomical site of skin lesions (seborrheic areas: scalp, truncus, face, hair line and flexures), and 3) distinctive nail changes (longitudinal lines, fissures, subungual hyperkeratosis, brittleness, and V-shaped notches distally). The diagnosis of Darier's disease was considered "confirmed" when at least one of the following additional requirements were met: 1) molecular genetic confirmation (identification of a pathogenic variant in the ATP2A2 as determined by the clinical geneticists), 2) histopathological confirmation (biopsy showing Darier's disease acantholysis and dyskeratosis), or 3) family history of Darier's disease (medical history with one or more family members with similar symptoms or a confirmed diagnosis). ...Citations
... Darier´s disease is an autosomal dominant genodermatosis caused by mutations in ATP2A2 gene. It involves seborrheic areas wherein hyperkeratotic papules and plaques can be seen [1]. Oral, laryngeal, esophageal, rectal mucosae are also less frequently involved [2]. ...
Keratosis follicularis also called as Darier's disease, is a rare autosomal dominant cutaneous disease. It is characterized by greasy keratotic sometimes crusted red to brown papules and plaques over seborrheic areas and in flexures with nail abnormalities. It is well established that the disease begins between the ages of 6 and 20 years, with a peak onset during puberty. The disease tends to manifest early, especially with the family history of the disease. Hereby, we report a case of Darier's disease with a special interest in its late onset presentation despite having significant family history of the disease, along with clinicopathological and dermoscopic features. We also highlight the use of non-invasive investigative technique of dermoscopy as a tool to diagnose the disease.
