PhD Scientific Days 2022

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

Clinical Manifestations of 28 Hungarian Patients with Genetically Determined Chronic Mucocutaneous Candidiasis

Előadó neve

Dr. Hon-Balla, Bernadett

Előadó munkahelye

Department of Dermatology, Venereology and Dermatooncology

Előadó telefonszáma

06706180115

Előadó e-mail címe

bernadett.honballa@gmail.com

Az előadás címe

Clinical Manifestations of 28 Hungarian Patients with Genetically Determined Chronic Mucocutaneous Candidiasis

Szerző(k) neve és munkahelye

Dr. Bernadett Hon-Balla1
Dr. med. habil Melinda Erdős1

1 Department of Dermatology, Venereology and Dermatooncology, Budapest

Bemutatás módja

Poszter

Szekció

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

Language of the presentation

English

Preferred session

Clinical Medicine

Összefoglaló szövege

Introduction: Chronic mucocutaneous candidiasis (CMC) is a genetically heterogeneous group of primary immunodeficiency disorders characterised by chronic, recurrent, or therapy-resistant non-invasive skin, nail and mucous membrane infections caused by Candida. Syndromic forms of CMC are multisystemic and may also present with recurrent respiratory infections, autoimmune diseases, allergies, and skeletal malformations.
Aims: To determine the genetic and clinical characteristics of 28 Hungarian patients with CMC.
Methods: Patients underwent physical examination and the clinical, laboratory and genetic data were analysed.
Results: The identified mutations were in the genes AIRE (n=10), STAT3 (n=10), STAT1 (n=6) and DOCK8 (n=2). Out of the 28 patients, 78.6% (n=22) had fungal infections, of which onychomycosis, oropharyngeal and vulvovaginal candidiasis were most frequently observed. Furthermore, 46.4% (n=13) of patients had non-fungal infections. Cold abscesses were seen in 50% (n=5) of patients with STAT3 mutation. Skin and mucosal symptoms were displayed by 67.9% (n=19) of patients. Atopic dermatitis was most prevalent with 57.9% (n=11) patients. Other skin and mucosal symptoms occurred less frequently, including aphthous stomatitis, neonatal exanthema, alopecia, angular cheilitis, vitiligo, rosacea, hidradenitis suppurativa, melanoma, toxicoderma, acneiform lesions and erythematous lupus-like lesions. Respiratory symptoms occurred in 57.1% (n=16), of which recurrent respiratory infections were the most common. Job’s facies dominated the skeletal manifestations (n=8), with all 8 patients having STAT3 mutation. Haematological symptoms were present in 35.8% (n=10), anaemia being the most prevalent. Oesophageal scarring (n=4) was the most common gastrointestinal finding. Autoimmune diseases were noted in 9 patients, of which 8 had AIRE mutation, and one had STAT1. Food allergy was observed in 3 STAT3 and both patients with DOCK8 mutations.
Conclusion: In our patients, fungal infections and other non-fungal skin and mucosal symptoms dominate the phenotype of CMC, namely oropharyngeal mycosis, onychomycosis, bacterial skin infections, atopic dermatitis, and aphthous stomatitis. In addition, recurrent respiratory infections, anaemia, oesophageal scarring and autoimmune endocrinopathies were present.
Funding: EFOP-3.6.3-VEKOP-16-2017-00009

University and Doctoral School

Semmelweis University, Károly Rácz Doctoral School of Clinical Medicine

Supervisor

Dr. med. habil Melinda Erdős

Publication of my abstract

I give consent to the publication of my abstract on the website of the congress.

Kind

Szabad

Status

elfogadva

Accepted presentation method

poszter

Előadás fájl jóváhagyás

nem rendelkezett róla

Előadó

6850

Start

13:15

End

13:20

Authors (legacy)

Dr. Bernadett Hon-Balla1
Dr. med. habil Melinda Erdős1

1 Department of Dermatology, Venereology and Dermatooncology, Budapest