JMIR Publications

ABSTRACT

Background:

Congenital Telangiectatic Erythema (CTE), also known as Bloom Syndrome (BS), is a rare autosomal recessive disorder characterized by below average height, a narrow face, a red skin rash occurring on sun-exposed areas of the body, and an increased risk of cancer. CTE is one of many genodermatoses and photodermatoses associated with defects in DNA repair. CTE is caused by a mutation occurring in the BLM gene which causes abnormal breaks in chromosomes.

Objective:

We aimed to analyze the existing literature on CTE to provide additional insight into its heredity, the spectrum of clinical presentations and management of this disorder. Additionally, we outline gaps in current research and the use of artificial intelligence to streamline clinical diagnosis and management of CTE.

Methods:

A literature search was conducted on PubMed, DOAJ, and Scopus using the search terms: ‘congenital telangiectatic erythema’, ‘bloom syndrome’,and ’bloom-torre-machacek’. Due to limited current literature, studies published from January 2000 to January 2023 were considered for this review. A total of 49 sources from the literature were analyzed.

Results:

Through this review, the researchers were able to identify several publications focusing on Bloom Syndrome. Some common subject areas included heredity of CTE, clinical presentations of CTE and management of CTE. In addition, the literature on rare diseases shows potential advancements in understanding and treatment with artificial intelligence. Future studies should address the causes of heterogeneity in presentation, and examine potential therapeutic candidates for CTE and similarly presenting syndromes.

Conclusions:

This narrative review illuminated the use of social media as a form of patient education for dermatology, with its applications addressed across many demographics and situations. As social media platforms continue to update their algorithms, content filters, and posts, social media may become a reputable form of patient education in dermatology. Future studies and innovations should continue to explore innovations in this space, the efficacy of different modalities of posts, and longitudinal differences in patient outcomes and health literacy.