Skin and Connective Tissue Diseases

All Conditions

Diseases and Abnormalities at or Before Birth

Eye Diseases

Immune System Diseases

Neoplasms

Nervous System Diseases

Nutritional and Metabolic Diseases

Symptoms and General Pathology

Rare Diseases

Skin Diseases

Epidermolysis Bullosa

Pemphigoid, Benign Mucous Membrane

Pemphigoid, Bullous

Neurofibromatoses

Neurofibromatosis 1

Neurofibroma

Ichthyosis

Albinism

Ectodermal Dysplasia

Keratoderma, Palmoplantar

Pemphigus

Incontinentia Pigmenti

Nerve Sheath Neoplasms

Neoplasms, Nerve Tissue

Neoplasms by Histologic Type

Syndrome

Neoplastic Syndromes, Hereditary

Neurocutaneous Syndromes

Heredodegenerative Disorders, Nervous System

Neurodegenerative Diseases

Genetic Diseases, Inborn

Peripheral Nervous System Diseases

Neuromuscular Diseases

Congenital Abnormalities

Skin Abnormalities

Skin Diseases, Genetic

Skin Diseases, Vesiculobullous

Autoimmune Diseases

Infant, Newborn, Diseases

Keratosis, Actinic

Keratosis

Abnormalities, Multiple

Eye Diseases, Hereditary

Metabolism, Inborn Errors

Amino Acid Metabolism, Inborn Errors

Hypopigmentation

Pigmentation Disorders

Metabolic Diseases

Conjunctival Diseases

Bullous Pemphigoid

Mucous Membrane Pemphigoid

Neurofibromatosis

Neurofibromatosis Type 1

Palmoplantar Keratoderma

Inborn Amino Acid Metabolism Disorder

Hypomelanotic Disorder

Christine BODEMER

Catherine PROST

Christine LEAUTE-LABREZE

Marie-Sylvie DOUTRE

Pierre WOLKENSTEIN

Pierre VABRE

Christophe BEDANE

Marie-Aleth RICHARD

Didier BESSIS

Christine CHIAVERINI

Emmanuelle BOURRAT

Philippe BERNARD

Pascal JOLY

Juliette MAZEREEUW-HAUTIER

Annabel MARUANI

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.

FARD (RaDiCo Cohort) (RaDiCo-FARD)

National Cohort for Evaluation of the Burden of Rare Skin Diseases

Before 16 years old, we will focus on the burden of families. After 16 years old, the patient's parent will continue to answer to the family Burden questionnaire and the patient will start to answer to the adult's Burden questionnaire.

Institut National de la Santé Et de la Recherche Médicale, France

Musculoskeletal Diseases

Mouth and Tooth Diseases

Behaviors and Mental Disorders

Sclerosis

Cutis Laxa

Tuberous Sclerosis

Basal Cell Nevus Syndrome

Birt-Hogg-Dube Syndrome

Nevus, Pigmented

Nevus

Hamartoma

Neoplasms, Multiple Primary

Malformations of Cortical Development

Nervous System Malformations

Cysts

Odontogenic Cysts

Jaw Cysts

Bone Cysts

Carcinoma

Carcinoma, Basal Cell

Neoplasms, Glandular and Epithelial

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

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%.

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
FARD (RaDiCo Cohort) (RaDiCo-FARD)	NCT05954416	Inherited Epide... Ichthyosis Ectodermal Dysp... Incontinentia P... Neurofibromatos... Albinism Pemphigus Mucous Membrane... Palmoplantar Ke...		-	Institut National de la Santé Et de la Recherche Médicale, France
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
FARD (RaDiCo Cohort) (RaDiCo-FARD)	NCT05954416	Inherited Epide... Ichthyosis Ectodermal Dysp... Incontinentia P... Neurofibromatos... Albinism Pemphigus Mucous Membrane... Palmoplantar Ke...		-	Institut National de la Santé Et de la Recherche Médicale, France

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