PhD Scientific Days 2022

Clinical Medicine VII. (Poster discussion will take place in the Aula during the Coffee Break)

Multimodal aspects of two skin fragility syndromes – comparative study of Darier disease and Hailey-Hailey disease

Text of the abstract

Background and aim
Darier disease (DD, OMIM 124200) and Hailey-Hailey disease (HHD, OMIM 169600) are rare acantholytic genodermatoses with an autosomal dominant inheritance. Although both diseases are characterized by loss of adhesion between keratinocytes as a result of impaired function of ATPases in epidermal calcium channels, the two conditions usually have different clinical presentation and therapeutic options. DD usually manifests brownish, keratotic papules in seborrheic and intertriginous areas. HHD dominantly appears as papulovesicles and small blisters, erosions and painful fissures in intertriginous areas. Our aim was to compare clinical, bacterological, histopathological and genetical characteristics of DD and HHD patients. We also aimed to visualise specific dermoscopic features.
Methods
We retrospectively analysed DD and HHD patients treated at the Department of Dermatology, Dermatooncology and Venerology, Semmelweis University between 2016-2022. Clinical diagnosis was confirmed with histological and molecular genetical verification. Clinical and dermoscopic photographs were captured. Microbiological and therapeutic aspects were considered.
Results
We analysed 17 cases of DD and 15 cases of HHD. In 13 cases, the disease exhibited autosomal dominant inheritance, while there were 8 patients with de novo mutations. In 1 case of DD postzygotic mutation with somatic mosaicism was observed. 12 patients had dermoscopic images from which all cases that one or more characteristic features of DD or HHD. 6 patients received systemic retinoid therapy. 4 patients have CO2 laser surgery. The most common bacteria identificated from skin lesions was Staphylococcus aureus.
Conclusion
DD manifests with brownish keratotic papules, covered by whitish-yellowish crusts. In HHD, erosions, blisters and fissures dominantly involves intertriginous areas. Dermoscopy has been increasingly used for supplementing clinical examination in both conditions. While biopsy is fundamental for the diagnoses, dermoscopy may be a useful, non-invasive, in vivo tool for identifying the progression of the diseases and to monitor treatment outcomes. Microbiological culture and defining antibiotic resistance are important for the optimal treatment.
Funding
This work was supported by grants NKFIH [FK_131916, 2019];ÚNKP-21-4-II-SE-10 (N.K.);EFOP-3.6.3-VEKOP-16-2017-00009