Symptoms and General Pathology

All Conditions

Diseases and Abnormalities at or Before Birth

Skin and Connective Tissue Diseases

Neoplasms

Nervous System Diseases

Eye Diseases

Nutritional and Metabolic Diseases

Musculoskeletal Diseases

Mouth and Tooth Diseases

Behaviors and Mental Disorders

Rare Diseases

Syndrome

Sclerosis

Cutis Laxa

Keratosis, Actinic

Keratosis

Epidermolysis Bullosa

Tuberous Sclerosis

Ichthyosis

Albinism

Basal Cell Nevus Syndrome

Birt-Hogg-Dube Syndrome

Ectodermal Dysplasia

Keratoderma, Palmoplantar

Nevus, Pigmented

Skin Diseases, Genetic

Nevus

Skin Diseases

Congenital Abnormalities

Skin Abnormalities

Genetic Diseases, Inborn

Skin Diseases, Vesiculobullous

Hamartoma

Neoplasms, Multiple Primary

Neoplastic Syndromes, Hereditary

Malformations of Cortical Development

Nervous System Malformations

Neurocutaneous Syndromes

Heredodegenerative Disorders, Nervous System

Neurodegenerative Diseases

Infant, Newborn, Diseases

Abnormalities, Multiple

Eye Diseases, Hereditary

Metabolism, Inborn Errors

Amino Acid Metabolism, Inborn Errors

Hypopigmentation

Pigmentation Disorders

Metabolic Diseases

Cysts

Odontogenic Cysts

Jaw Cysts

Bone Cysts

Carcinoma

Carcinoma, Basal Cell

Neoplasms, Glandular and Epithelial

Neoplasms by Histologic Type

Neoplasms, Basal Cell

Bone Diseases

Bone Diseases, Developmental

Jaw Diseases

Stomatognathic Diseases

Connective Tissue Diseases

Quality of Life

Tuberous Sclerosis Complex

Nevoid Basal Cell Carcinoma Syndrome

Palmoplantar Keratoderma

Inborn Amino Acid Metabolism Disorder

Hypomelanotic Disorder

Keratinisation disorders comprise a heterogeneous group characterised by abnormal epidermal differentiation, such as variants of ichthyosis and palmoplantar keratoderma.

Skin fragility disorders comprise a group of inherited blistering diseases, such as variants of epidermolysis bullosa.

Ectodermal dysplasias consists of multiple inherited disorders that are characterised by abnormalities of the embryonic ectoderm, such as hair, nails, sweat glands or teeth.

This group are genodermatoses associated with the development of malignancies ((non-)cutaneous), such as basal cell nevus syndrome (BCNS), Birt-Hoog-Dubé syndrome, tuberous sclerosis, etc.

In this group genodermatoses are listed that do not fit the other groups as mentioned above, for example albinism and cutis laxa.

This group includes clinical geneticists, dermatologists and other clinicians involved in the care of patients with genodermatoses.

Gaining insight into the perspectives of patients with genodermatoses and their partners, and health care professionals concerning reproductive decision-making and counselling.

Qualitative interview

Fauve C van Veen, MD

Fauve C van Veen

Antoni Gostynski, MD, PhD

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.

Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling

Investigating Perspectives of Patients With Genodermatosis and Healthcare Professionals on Reproductive Counselling

Qualitative evaluation of the perspectives and needs of patients with genodermatoses and their partners who wish to have children, as well as clinicians involved in the decision-making process and the consideration of reproductive options, such as prenatal diagnosis (PND), pre-implantation genetic testing (PGT), adoption, the use of donor gametes, refraining from having children, natural pregnancy without genetic testing or foster care. And assessing their level of knowledge on these reproductive options.

Maastricht University Medical Center

Xeroderma Pigmentosum

Precancerous Conditions

Photosensitivity Disorders

DNA Repair-Deficiency Disorders

The goal of this observational study is to learn about the indications for prenatal diagnostics and preimplantation genetic testing for patients/couples affected by an inherited skin disease, and evaluate the clinical outcomes of these reproductive options. By providing a complete overview, the investigators aim to improve reproductive counselling for these patients/couples with a desire to have children.

To achieve this, the investigators aim to retrospectively collect data from a cohort of patiens/couples affected by an inherited skin disease on a national level (in the Netherlands) and also an international level from various countries in Europe.

Reproductive Options in Inherited Skin Diseases

Reproductive Options in Inherited Skin Diseases: an International Observational Cohort Study

Outcomes of reproductive options such as prenatal diagnostics (PND) and preimplantation genetic testing (PGT) will be assessed, looking at indications, decision-making by professionals and/or the Dutch national indication committee as to whether or not to start a PGT procedure. The results of PND and PGT, pregnancy outcomes (success rates) and risks (i.e. the risk of miscarriage) will be summarised. The percentage of continuing pregnancies from prenatal screening techniques (especially PGT) will be calculated. In addition, the percentage of affected embryos will be calculated for different genodermatoses per PGT cycle using using the following formula: (number of affected embryos)/(total number of embryos)\*100%.

Carcinoma, Squamous Cell

Epidermolysis Bullosa Dystrophica

Skin Neoplasms

Rheumatic Diseases

Collagen Diseases

Dystrophic Epidermolysis Bullosa

Recessive Dystrophic Epidermolysis Bullosa

Participants will complete an online survey and submit photographs.

online survey

In this study, an artificial intelligence model to detect squamous cell carcinomas (SCC) on photos of recessive dystrophic epidermolysis bullosa (RDEB) skin is developed. The ultimate goal is to integrate this model into an app for patients and physicians, to help detect SCCs in RDEB early.

SCCs which rapidly metastasize are the main cause of death in adults with RDEB. The earlier an SCC is recognized, the easier it can be removed and the better the outcome. AI leverages computer science to perform tasks that typically require human intelligence and has recently been used to identify skin cancers based on images. We are currently developing an AI approach for early detection of SCC and distinction of malignancy from chronic wounds and other RDEB skin findings. The aim is to create a web application for patients with RDEB to upload images of their skin and get an output as to SCC present/ no SCC. This will be especially valuable for patients with difficult access to medical expertise and those who are hesitant to allow full skin examination at each visit, often because of fear of biopsies. Thus, this project will directly benefit patients by allowing early recognition of SCCs and will empower patients and their families by providing a home use tool.

So far, the study team has mainly used professional images (photographs taken in hospital settings by physicians, nurses, and clinical photographers) of both SCCs in RDEB and images of RDEB skin without SCC to develop and train the AI model. The images that are expected in a real-life setting will mostly be pictures taken by patients or family members with their phones or digital cameras. These images have different properties regarding resolution, focus, lighting, and backgrounds. Incorporating such images will be crucial in the upcoming phases of model development-testing and validation-for the web application be a success for patients.

This project will enroll adolescents and adults with RDEB and history of at least one SCC. The survey and consents will be provided in English, Spanish, German, French, Arabic, Chinese, and Russian. The study team is inviting people with RDEB around the world to participate and are hoping that approximately 100 people will provide images.

Participants will be asked to complete the survey and upload photographs of SCC(s) using the links below. Depending on the number of SCCs they have had and the number of photos they want to provide, the survey will take approximately 15-20 minutes to complete.

To participate in this study, please follow this link:

https://redcap.nubic.northwestern.edu/redcap/surveys/?s=JH9LHR4CC4R4H3HN

Artificial Intelligence Patient App for RDEB SCCs

Developing a Novel Artificial Intelligence Patient App to Recognize Squamous Cell Carcinoma (SCCs) in Recessive Dystrophic Epidermolysis Bullosa (RDEB): Image Collection

Epidermolysis Bullosa Research Partnership

Northwestern University

Principal Investigator

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling	NCT06330350	Quality of Life Ichthyosis Palmoplantar Ke... Epidermolysis B... Ectodermal Dysp... Basal Cell Nevu... Birt-Hogg-Dube ... Tuberous Sclero... Cutis Laxa Albinism	Qualitative int...	-	Maastricht University Medical Center
Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling	NCT06330350	Quality of Life Ichthyosis Palmoplantar Ke... Epidermolysis B... Ectodermal Dysp... Basal Cell Nevu... Birt-Hogg-Dube ... Tuberous Sclero... Cutis Laxa Albinism	Qualitative int...	-	Maastricht University Medical Center
Reproductive Options in Inherited Skin Diseases	NCT06330324	Ichthyosis Palmoplantar Ke... Epidermolysis B... Ectodermal Dysp... Basal Cell Nevu... Birt-Hogg-Dube ... Tuberous Sclero... Xeroderma Pigme... Cutis Laxa Albinism		-	Maastricht University Medical Center
Artificial Intelligence Patient App for RDEB SCCs	NCT05843994	Epidermolysis B...	online survey	12 Years -	Northwestern University

Spots Global Cancer Trial Database for epidermolysis bullosa