#Bloom syndrome skin

This family of helicases is highly conserved throughout species, with five RECQ-like (RECQL) helicases existing in mammals. The RECQ helicase family, in particular, act as genome guardians by maintaining DNA stability in response to replicative, transcriptional, and telomeric stress. Helicases unwind double and multi-stranded DNA or RNA during replication and transcription. The BLM gene encodes a RecQ helicase, RECQ元, otherwise known as the Bloom syndrome protein (Blm). Parental consanguinity is more common than in the general population. About 170 cases have been reported in the United States of America. They account for 25% of affected individuals worldwide (approximately 1% of Ashkenazi Jews are carriers of the BLMAsh mutation). It has been most commonly described in the Ashkenazi Jewish population. Epidemiologyīloom syndrome is an extremely uncommon disorder in most populations, with only 281 patients listed in the Bloom syndrome registry as of 2018. As a result of the high rate of genomic instability, individuals with Bloom syndrome are at increased risk of developing malignancies. Mutations in the BLM gene generate errors during DNA replication and lead to more numerous chromosomal rearrangements and breakages. The BLM gene encodes a BLM helicase, which forms a complex with two other proteins, DNA topoisomerase IIIα and RMI. It is due to mutations in the BLM gene located at 15q26.1. Etiologyīloom syndrome is a rare autosomal recessive disorder of chromosomal instability. The increased risk of malignancy in Bloom syndrome leads to a shortened life expectancy and increased morbidity in affected persons.

#Bloom syndrome skin

The most prominent features include growth deficiency of prenatal onset, mild immunodeficiency, excessive photosensitivity with facial lupus-like skin lesions, type 2 diabetes mellitus, and hypogonadism. High sister chromatid exchanges and quadriradial configurations are diagnostic hallmarks. Bloom syndrome is caused by mutations in the BLM gene, which induces the formation of an abnormal DNA helicase protein.

Explain the importance of improving care coordination amongst the interprofessional team to enhance the delivery of care for patients with Bloom syndrome.īloom syndrome, also called Bloom-Torre-Machacek syndrome or congenital telangiectatic erythema, is a rare genodermatosis characterized by genomic instability and predisposition to the development of a variety of cancers.

Describe the treatment considerations for patients with Bloom syndrome.

Outline the physical exam findings associated with Bloom syndrome.

Identify the etiology of Bloom syndrome.

This activity outlines the evaluation and management of Bloom syndrome and highlights the role of the interprofessional team in improving care for patients suffering from this condition. Bloom syndrome is due to mutations in the BLM gene.

Bloom syndrome, also called Bloom-Torre-Machacek syndrome or congenital telangiectatic erythema, is a rare autosomal recessive inherited disorder characterized by genomic instability and predisposition to the development of all types of cancer.