Congenital Telangiectatic Erythema: Scoping Review

Area of Science:

• Genetics and Molecular Biology
• Dermatology
• Rare Diseases

Background:

• Congenital telangiectatic erythema (CTE), also known as Bloom syndrome, is an autosomal recessive disorder.
• Characterized by growth abnormalities, facial features, and a photosensitive rash, CTE is linked to DNA repair defects.
• Mutations in the BLM gene cause chromosomal instability, contributing to CTE's pathology.

Purpose of the Study:

• To review existing literature on CTE, focusing on heredity, clinical spectrum, and management.
• To identify research gaps and explore the role of artificial intelligence in CTE diagnosis and care.
• To provide updated insights into this rare genodermatosis.

Main Methods:

• A scoping review of literature from January 2000 to January 2023.
• Searches were conducted on PubMed, DOAJ, and Scopus using relevant keywords.
• Analysis of 49 selected sources to synthesize current knowledge on CTE.

Main Results:

• Identified key research areas including CTE heredity, clinical presentations, and management strategies.
• Highlighted the potential of artificial intelligence (AI) in advancing the understanding and treatment of rare diseases like CTE.
• Noted the need for further research into the heterogeneity of CTE presentations.

Conclusions:

• Current advances reveal molecular targets and causative pathways for CTE, alongside its clinical hallmarks: erythema, cancer predisposition, and growth issues.
• Future research should focus on innovations, particularly AI (machine learning, deep learning), for diagnosing and managing rare diseases.
• Further investigation into therapeutic candidates for CTE and related syndromes is warranted.