Neurocutaneous Syndromes in Children: Prevalence and Clinical Characteristics

NCT07843823 | Not Yet Recruiting

• 1 other identifier: NCS-PEDS-Assiut-2026
• Study Type: observational
• Target: 100
• Locations: 0 countries
• Sites: N/A

Brief Summary

This cross-sectional study aims to determine the prevalence, clinical characteristics, and management patterns of neurocutaneous syndromes among children attending the Pediatric Neurology Unit at Assiut University.

Conditions

Sturge-Weber Syndrome; Neurocutaneous Syndromes; Neurofibromatoses; Tuberous Sclerosis

Keywords

Neurocutaneous Syndromes; Phakomatoses; Neurofibromatosis type 1; Tuberous Sclerosis Complex; Sturge-Weber Syndrome; Assiut

Outcome Measures

Primary Outcomes (8)

• Prevalence of Neurocutaneous Syndromes Among Pediatric Neurology Patients

  Proportion of children diagnosed with neurocutaneous syndromes among all patients attending the Pediatric Neurology Unit during the study period. Prevalence calculated as number of NCS cases divided by total number of pediatric neurology attendees during the same period.

  Baseline

• Distribution of Neurofibromatosis Type 1

  Frequency and percentage of Neurofibromatosis type 1 among diagnosed neurocutaneous syndrome cases.

  Baseline

• Distribution of Neurofibromatosis Type 2

  Frequency and percentage of Neurofibromatosis type 2 among diagnosed neurocutaneous syndrome cases.

  Baseline

• Distribution of Tuberous Sclerosis Complex

  Frequency and percentage of Tuberous Sclerosis Complex among diagnosed neurocutaneous syndrome cases.

  Baseline

• Distribution of Sturge-Weber Syndrome

  Frequency and percentage of Sturge-Weber syndrome among diagnosed neurocutaneous syndrome cases.

  Baseline

• Distribution of Von Hippel-Lindau Disease

  Frequency and percentage of Von Hippel-Lindau disease among diagnosed neurocutaneous syndrome cases.

  Baseline

• Distribution of Incontinentia Pigmenti

  Frequency and percentage of Incontinentia Pigmenti among diagnosed neurocutaneous syndrome cases.

  Baseline

• Distribution of Hypomelanosis of Ito

  Frequency and percentage of Hypomelanosis of Ito among diagnosed neurocutaneous syndrome cases.

  Baseline

Secondary Outcomes (17)

• Cutaneous Manifestations

  Baseline

• Epilepsy

  Baseline

• Developmental Delay

  Baseline

• Intellectual Disability

  Baseline

• CNS Tumors

  Baseline

Study Arms (1)

Single cohort: Children with neurocutaneous syndromes

Children from birth to 18 years diagnosed with neurocutaneous syndromes who will undergo clinical, laboratory, radiological, and management assessment.

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Children aged from birth to 18 years diagnosed with neurocutaneous syndromes attending the Pediatric Neurology Unit (outpatient or inpatient) at Assiut University during the study period.

You may qualify if:

• Age from birth to 18 years
• Diagnosis of neurocutaneous syndrome according to established clinical and/or genetic diagnostic criteria
• Written informed consent from parents or legal guardians

You may not qualify if:

• Uncertain diagnosis
• Incomplete medical records
• Refusal of parents or legal guardians to participate

Sponsors & Collaborators

• Assiut University: lead

MeSH Terms

Conditions

Sturge-Weber Syndrome; Neurocutaneous Syndromes; Neurofibromatoses; Tuberous Sclerosis; Neurofibromatosis 1

Condition Hierarchy (Ancestors)

Hemangioma; Neoplasms, Vascular Tissue; Neoplasms by Histologic Type; Neoplasms; Nervous System Diseases; Angiomatosis; Vascular Diseases; Cardiovascular Diseases; Ectodermal Dysplasia; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Skin Diseases; Skin and Connective Tissue Diseases; Neurofibroma; Nerve Sheath Neoplasms; Neoplasms, Nerve Tissue; Neoplastic Syndromes, Hereditary; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Hamartoma; Neoplasms, Multiple Primary; Malformations of Cortical Development, Group I; Malformations of Cortical Development; Nervous System Malformations; Peripheral Nervous System Diseases; Neuromuscular Diseases

Study Officials

• Mohamed M El telawy, prof

  pediatrics Department, Assiut University Hospitals

  STUDY CHAIR

Central Study Contacts

Eman M Zagloul, Resident

CONTACT

+20 11 51146456; emanmahmoudzagloul@gmail.com

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Resident Physician

Study Record Dates

• First Submitted: September 17, 2026
• First Posted: September 28, 2026
• Study Start: September 20, 2026
• Primary Completion (Estimated): September 20, 2027
• Study Completion (Estimated): February 20, 2028
• Last Updated: September 28, 2026

Record last verified: 2026-09

Data Sharing

• IPD Sharing: Will not share