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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Keratinisation disorders | Keratinisation disorders comprise a heterogeneous group characterised by abnormal epidermal differentiation, such as variants of ichthyosis and palmoplantar keratoderma. |
| |
| Skin fragility disorders | Skin fragility disorders comprise a group of inherited blistering diseases, such as variants of epidermolysis bullosa. |
| |
| Ectodermal dysplasias | Ectodermal dysplasias consists of multiple inherited disorders that are characterised by abnormalities of the embryonic ectoderm, such as hair, nails, sweat glands or teeth. |
| |
| Dermato-oncogenetic syndromes | 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. |
| |
| Other genodermatoses | In this group genodermatoses are listed that do not fit the other groups as mentioned above, for example albinism and cutis laxa. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Qualitative interview | Other | Gaining insight into the perspectives of patients with genodermatoses and their partners, and health care professionals concerning reproductive decision-making and counselling. |
| Measure | Description | Time Frame |
|---|---|---|
| Assessment of perspectives of affected patients + partners and of healthcare professionals concerning reproductive decision-making | 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. | 1 day |
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Inclusion Criteria:
Exclusion Criteria:
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The study population consists of adult patients with genodermatosis (i.e, keratinisation disorders, skin fragility diseases, ectodermal dysplasias, dermato-oncological syndromes, other genodermatoses) and a desire to have children, with if applicable his or her partner with a desire to have children, and health care professionals involved with the care of genodermatology patients (e.g. clinical geneticists, dermatologists).
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Fauve C van Veen, MD | Contact | +31433877293 | genodermatose@mumc.nl |
| Name | Affiliation | Role |
|---|---|---|
| Antoni Gostynski, MD, PhD | Maastricht University Medical Center | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Maastricht University Medical Center | Recruiting | Maastricht | Limburg | 6202 AZ | Netherlands |
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| Health care professionals | This group includes clinical geneticists, dermatologists and other clinicians involved in the care of patients with genodermatoses. |
|
| ID | Term |
|---|---|
| D007057 | Ichthyosis |
| D007645 | Keratoderma, Palmoplantar |
| D004820 | Epidermolysis Bullosa |
| D004476 | Ectodermal Dysplasia |
| D001478 | Basal Cell Nevus Syndrome |
| D058249 | Birt-Hogg-Dube Syndrome |
| D014402 | Tuberous Sclerosis |
| D003483 | Cutis Laxa |
| D000417 | Albinism |
| ID | Term |
|---|---|
| D012868 | Skin Abnormalities |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D007232 | Infant, Newborn, Diseases |
| D007642 | Keratosis |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D012873 | Skin Diseases, Genetic |
| D030342 | Genetic Diseases, Inborn |
| D012872 | Skin Diseases, Vesiculobullous |
| D000015 | Abnormalities, Multiple |
| D009807 | Odontogenic Cysts |
| D007570 | Jaw Cysts |
| D001845 | Bone Cysts |
| D003560 | Cysts |
| D009369 | Neoplasms |
| D002280 | Carcinoma, Basal Cell |
| D002277 | Carcinoma |
| D009375 | Neoplasms, Glandular and Epithelial |
| D009370 | Neoplasms by Histologic Type |
| D018295 | Neoplasms, Basal Cell |
| D009386 | Neoplastic Syndromes, Hereditary |
| D001848 | Bone Diseases, Developmental |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
| D007571 | Jaw Diseases |
| D009057 | Stomatognathic Diseases |
| D006222 | Hamartoma |
| D009378 | Neoplasms, Multiple Primary |
| D065703 | Malformations of Cortical Development, Group I |
| D054220 | Malformations of Cortical Development |
| D009421 | Nervous System Malformations |
| D009422 | Nervous System Diseases |
| D020752 | Neurocutaneous Syndromes |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D003240 | Connective Tissue Diseases |
| D015785 | Eye Diseases, Hereditary |
| D005128 | Eye Diseases |
| D000592 | Amino Acid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D017496 | Hypopigmentation |
| D010859 | Pigmentation Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
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