Ectodermal Dysplasia

Ectodermal dysplasia is a rare inherited condition that affects structures derived from the ectoderm, including teeth, skin, hair, and sweat glands. Dental findings are often severe and include missing or malformed teeth and poorly developed jaw ridges. These abnormalities can significantly affect chewing, speech, facial appearance, and quality of life, especially in children and young adults. Removable dentures, particularly overdentures when some teeth are present, are commonly used to restore function and appearance in these patients because they are conservative and cost-effective. However, conventional acrylic dentures may show dimensional changes during processing, which can lead to poor denture fit, reduced retention, and lower patient satisfaction. Three-dimensional (3-D) printed dentures are a newer digital fabrication method that may reduce material shrinkage and improve denture adaptation. Despite these potential advantages, clinical evidence comparing 3-D printed and conventional overdentures in patients with ectodermal dysplasia remains limited, highlighting the need for well-designed clinical studies. The purpose of this study is to compare patient satisfaction and denture base adaptation between 3-D printed maxillary overdentures and conventional acrylic maxillary overdentures in patients with ectodermal dysplasia.

The goal of this observational study is to conduct a prospective assessment of the individual Burden of 9 rare skin diseases to assess disability in the broadest sense of the term (psychological, social, economic and physical) for patients and/or families. Two types of indicators will be used to reach this objective : 1. an individual burden score calculated based on a burden questionnaire created specifically, approved and designed to understand the tendency to changes in care and lifestyles. The burden questionnaire should be used by patients and/or their family themselves in self-assessment. 2. a descriptive analysis of all resources (medical and non-medical) used by the family unit to manage the disease.

The goal of this observational study is to understand the perspectives and needs of patients with genodermatoses and their partners who wish to have children, regarding their decision-making process and their consideration of reproductive options. Additionally, the investigators aim to investigate the level of knowledge and perspectives of healthcare professionals (such as clinical geneticists, dermatologists and other clinicians involved), and want to explore to what extent patients and their partners are well informed about these reproductive options. To achieve this, the investigators will conduct individual semi-structured qualitative interviews with participants affected by genodermatoses (and their partners) and with healthcare professionals.