PhD Scientific Days 2021

CL_V_P: Clinical Medicine V. Posters

Genotype-phenotype correlation study and analysis of dermoscopy features in Darier disease

Text of the abstract

Introduction: Darier disease (DD, OMIM 124200) is a rare autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. DD is caused by mutations of the ATP2A2 gene, which encodes an endoplasmic reticulum calcium pump, sarco/endoplasmic reticulum ATPase type 2 (SERCA2). It usually manifests with small keratotic papules predominantly in the seborrheic areas such as the chest, back and the face.
Aims: our aim was to analyse genetical, clinical and histopathological characteristics of DD patients and to visualise specific dermoscopic features of the skin lesions.
Method: We retrospectively analysed DD patients treated at the Department of Dermatology, Dermatooncology and Venerology, Semmelweis University between 2016-2021. Diagnosis was confirmed with histological and molecular genetical verification. Clinical and dermoscopic photographs were captured. We compared our dermoscopic images with the specific dermoscopic features described in the literature.
Results: We analysed 14 cases of DD with a male: female ratio of 1:1 and a mean age of 49±18. In 6 cases, the disease exhibited autosomal dominant inheritance, while there were 7 patients with de novo sporadic mutations. In 1 case postzygotic mutation with somatic mosaicism was observed. 6 patients had dermoscopic images from which 4 cases that showed pink-reddish furrows along with whitish-yellowish scales with „cracked riverbed- like” appearance. 3 patients had small central polygonal yellowish-brownish areas surrounded by whitish halos.
Conclusion: DD is a rare genodermatosis that manifests with yellowish, brown or pink keratotic papules, covered by whitish-yellowish crusts. Dermoscopy has been increasingly used for supplementing clinical examination. Although only a few patients had dermoscopic photographs so far, all of them showed one or more specific features of DD. While biopsy is fundamental for the diagnosis of DD, dermoscopy may be a useful, non-invasive, in vivo tool for identifying the progression of the disease and to monitor treatment outcomes.
Funding: our Department is a center for rare diseases and part of the ERN-Skin: European Reference Network on rare skin disorders. This work was supported by grants from the National Research, Development and Innovation Office of Hungary– NKFIH (FK_131916, 2019) and EFOP-3.6.3-VEKOP-16-2017-00009.

University and Doctoral School

Semmelweis University, Károly Rácz Doctoral School of Clinical Medicine