The State of Sexual Development in Children With Inherited Epidermolysis Bullosa

National Medical Research Center for Children's Health, Russian Federation

Status: Unknown

Conditions: Hormone Disturbance; Puberty Disorders; Epidermolysis Bullosa Dystrophica; Dermatologic Disease; Epidermolysis Bullosa, Junctional; Kindler Syndrome; Epidermolysis Bullosa Simplex; Epidermolysis Bullosa

Treatments: Behavioral: Consultation of a medical psychologist; Radiation: Radiography of the hands; Diagnostic Test: Ultrasound examination; Diagnostic Test: Biochemical study of hormone levels

Study type: Observational

Funder types: Other

Identifiers

NCT05033574

6

Details and patient eligibility

About

The aim of the study is to determine the state of sexual development in patients with inherited epidermolysis bullosa; the study is planned to include boys and girls aged 8 to 18 years with a diagnosis of epidermolysis bullosa simplex, junctional epidermolysis bullosa, Kindler syndrome.

Full description

Determination of sexual development in children with various types of inherited epidermolysis bullosa using clinical, laboratory and instrumental methods for diagnosing the condition.

Phenotyping of patients with inherited epidermolysis bullosa, taking into account their physical and sexual development, indicators of self-attitude and socialization.

Development of algorithms for individual care for patients with inherited epidermolysis bullosa, including an assessment of the psychological state at different age stages (primary school and adolescence), the volume and form of psychological and pedagogical assistance in complex rehabilitation.

Enrollment: 50 patients

Sex: All

Ages: 8 to 18 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

1. Male and female patients from 8 to 18 years of age with an established diagnosis of epidermolysis bullosa simplex, junctional epidermolysis bullosa, dystrophic epidermolysis bullosa, Kindler syndrome.

Exclusion criteria

1. Hypergonadotropic hypogonadism;
2. previous treatment with sex steroids or gonadotropins;
3. the presence of endocrine diseases (hypothyroidism, hypercorticism, hyperprolactinemia, diabetes mellitus);
4. the presence of chronic somatic diseases that are not complications of inherited epidermolysis bullosa (bronchopulmonary diseases, cardiovascular diseases, diseases of the urinary system, diseases of the gastrointestinal tract).

Trial design

50 participants in 8 patient groups

Prepubescent and pubertal girls with an established diagnosis of epidermolysis bullosa simplex

Description:

Female patients aged 8 to 18 years with a diagnosis of epidermolysis bullosa simplex. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned.

Treatment:

Behavioral: Consultation of a medical psychologist

Diagnostic Test: Ultrasound examination

Radiation: Radiography of the hands

Diagnostic Test: Biochemical study of hormone levels

Prepubescent and pubertal girls with an established diagnosis of junctional epidermolysis bullosa

Description:

Female patients aged 8 to 18 years with a diagnosis of junctional epidermolysis bullosa. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned.

Treatment:

Behavioral: Consultation of a medical psychologist

Diagnostic Test: Ultrasound examination

Radiation: Radiography of the hands

Diagnostic Test: Biochemical study of hormone levels

Prepubescent and pubertal girls with an established diagnosis of epidermolysis bullosa dystrophic

Description:

Female patients aged 8 to 18 years with a diagnosis of epidermolysis bullosa dystrophic. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned.

Treatment:

Behavioral: Consultation of a medical psychologist

Diagnostic Test: Ultrasound examination

Radiation: Radiography of the hands

Diagnostic Test: Biochemical study of hormone levels

Prepubescent and pubertal girls with an established diagnosis of Kindler syndrome

Description:

Female patients aged 8 to 18 years with a diagnosis of Kindler syndrome. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned.

Treatment:

Behavioral: Consultation of a medical psychologist

Diagnostic Test: Ultrasound examination

Radiation: Radiography of the hands

Diagnostic Test: Biochemical study of hormone levels

Prepubescent and pubertal boys with an established diagnosis of epidermolysis bullosa simplex

Description:

Male patients aged 8 to 18 years with a diagnosis of epidermolysis bullosa simplex. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned.

Treatment:

Behavioral: Consultation of a medical psychologist

Diagnostic Test: Ultrasound examination

Radiation: Radiography of the hands

Diagnostic Test: Biochemical study of hormone levels

Prepubescent and pubertal boys with an established diagnosis of junctional epidermolysis bullosa

Description:

Male patients aged 8 to 18 years with a diagnosis of junctional epidermolysis bullosa. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned.

Treatment:

Behavioral: Consultation of a medical psychologist

Diagnostic Test: Ultrasound examination

Radiation: Radiography of the hands

Diagnostic Test: Biochemical study of hormone levels

Prepubescent and pubertal boys with an established diagnosis of epidermolysis bullosa dystrophic

Description:

Male patients aged 8 to 18 years with a diagnosis of epidermolysis bullosa dystrophic. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned.

Treatment:

Behavioral: Consultation of a medical psychologist

Diagnostic Test: Ultrasound examination

Radiation: Radiography of the hands

Diagnostic Test: Biochemical study of hormone levels

Prepubescent and pubertal boys with an established diagnosis of Kindler epidermolysis bullosa

Description:

Male patients aged 8 to 18 years with a diagnosis of Kindler syndrome. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned.

Treatment:

Behavioral: Consultation of a medical psychologist

Diagnostic Test: Ultrasound examination

Radiation: Radiography of the hands

Diagnostic Test: Biochemical study of hormone levels