It is proposed to conduct an exploratory study to analyze the skin, intestinal, and salivary microbiome, as well as the skin mycobiome and virome, of patients (adolescents and young adults) with Netherton syndrome, a condition characterized by an impaired skin barrier that most likely promotes the development of allergic manifestations.
The study will be conducted on patients with Netherton syndrome and control subjects in order to investigate possible correlation factors between the three microbiomes and identify which ones.
Children aged 10 years and older and adults with confirmed Netherton syndrome diagnosed at age 10 years or older (clinical and histological and/or molecular)
Patients and legal guardians informed about the study and not opposed to participation in the study
Children aged 10 years and older and adults with no skin barrier impairment, dermatosis, inflammatory disease, or autoimmune disease.
Subjects and legal guardians informed about the study and who do not object to participation in the study.
Refusal by parents/guardians, children, adolescents, or adults.
General or local antibiotic therapy within the month preceding the consultation.
Inclusion of children, adolescents, and young adults with Netherton syndrome, and control subjects of the same age and sex, treated at the service but without dermatosis or inflammatory and/or autoimmune diseases.
Case-control
Prospective
Superficial skin swabs
Biological/VaccineSampling areas: (18 swabs in total + 6 swabs for routine skin mapping) 1. Lesion area outside skin folds (e.g., back or limb) 2. Healthy area outside skin folds (e.g., back or limb) 3. Perioral area of the face 4. Scalp 5. Inguinal fold 6. Axillary fold
Superficial skin swabs
Biological/VaccineThree superficial skin swabs: same locations as for Netherton patients
Stool samples
Biological/VaccineA stool sample collected for analysis of the fecal microbiome and mycobiome.
Saliva samples
Biological/VaccineA saliva sample collected for analysis of the saliva microbiome and mycobiome.
Blood samples
Biological/VaccineFor group A: cytokine profile from an additional blood sample taken during a blood draw for treatment For group B: cytokine profile if there is any residual blood sample from the treatment
Blood samples
Biological/VaccineFor group A: cytokine profile from an additional blood sample taken during a blood draw for treatment For group B: cytokine profile if there is any residual blood sample from the treatment
Data-Collection
Other interventionSocio-demographic data and lifestyle habits of the patient and parents
Data-Collection
Other interventionClinical data, treatment data, and results of biological tests carried out as part of routine monitoring
Study of the skin, salivary and intestinal microbiota
Analyse the skin microbiome, mycobiome, and virome, as well as the intestinal and salivary microbiome of patients with Netherton syndrome in comparison with healthy controls.
Change in microbiome signature
Identify any changes in the microbiome signature of patients with Netherton syndrome.
Microbial interactions of the skin
Study the relationship between the different skin microbiome, mycobiome, and virome
Circulating cytokine profiles
Study circulating cytokine profiles
Markers of digestive inflammation
Study markers of digestive inflammation in stool samples
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Assistance Publique - Hôpitaux de Paris
Lead sponsor
URC-CIC Paris Descartes Necker Cochin
Collaborator
