Dermatology and Down syndrome
Dr. K.C. Noz, prof. dr. E. de Vries, dr. B.L. den Oudsten, dr. F.B. de Waard-van der Spek (Fransciscus Gasthuis & Vlietland)
Down syndrome (also trisomy 21) is a common genetic disorder with typical physical features, mental retardation, and disorders of several organ systems. Only in recent decades attention has been drawn to dermatological problems. Some minor and very common dermatological conditions like dry skin and keratosis pilaris occur, but also disabling inflammatory skin disease like hidradenitis suppurativa.
With our research we want to evaluate the prevalence of dermatological conditions in persons with Down syndrome. But more important, we want to learn more about the impact of dermatological problems on the quality of life and the impact on their social network.
In order to determine what knowledge is already available we started by performing a scoping review of the literature. We searched the literature for dermatological disorders in persons with Down syndrome and focus on diagnosis, possible previous misdiagnosis, patient and doctor delay, treatment, aspects of self-management, and the impact of dermatological disorders on the quality of life.
In the past I carried out full body dermatological examinations in two populations of individuals with Down syndrome. The first is a group of young children during their regular visit to the Down syndrome pediatrician outpatient clinic (so, unselected for skin problems). The second group consisted of teens and (young) adults who visited a dermatological outpatients clinic. The raw data of these cohorts will be analyzed and compared to the literature. It provides information about medical healthcare professionals’ view of dermatological problems in persons with Down syndrome in the Netherlands.
The third part of our research concerns an online question survey with which we want to investigate self-reporting / parental reporting of dermatological problems in persons with Down syndrome. The questionnaire was open for 2 years for individuals with Down syndrome and their caretakers to answer questions about (a) quality of life due to dermatological problems, (b) specific diagnoses and the journey of medical consultations they made before diagnosis or management, and (c) family (and patient) satisfaction concerning dermatological care for persons with Down syndrome in the Netherlands. Despite the Covid-19 pandemic we had a response of 550 individuals.
Finally, we will compare the information gained from literature, from the view of health care
professional (dermatologist) and from the view of parents, looking for similarities or discrepancies.
Goal of our research:
With our research we want to determine the current state of knowledge about dermatological problems in persons with Down syndrome. We will investigate the impact of dermatological problems on the quality of life. And we want to identify the current state of dermatological healthcare for individuals with Down syndrome in the Netherlands.
Our research can be a basis for further research or initiatives to improve dermatological healthcare for persons with Down syndrome.