Bloom Syndrome

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Bloom syndrome is a rare autosomal recessive inherited disorder cause by multiply break and rearrangements in chromosomes characterized by short stature, telangiectases and photosensitivity, immunodeficiency and greatly increases the risk of developing multiple cancer in the early life. In 1954 dermatologist Dr.David Bloom first describe about Bloom Syndrome.

what causes the Bloom syndrome ?

Bloom syndrome is resulting from mutations in a gene on the long arm of chromosome number 15. The BLM gene encodes for one part of a multi-enzyme Bloom’s syndrome complex (called BTB) that facilitates DNA repair, and helps ensure the integrity of the genome.  Only a child who receives two mutated copies of the BLM gene (one from each parent) will get the disease. More than 60 known mutations of the BLM gene have been documented in the bloom syndrome.

What are the symptoms of Bloom syndrome?

1. Growth delay.
2. congenital telangiectatic erythema (dilated blood vessels)
3. Facial rash that developed shortly after first exposure to sun (Rash may be butterfly-shaped patch mainly on the cheeks).
4. Pigmentation changes in skin including hyper or hypo pigmented areas.
5. Café-au-lait spots
6. High pitch voice
7. Long and narrow face, micrognathism of the mandible and prominent nose and ears.
8. Immune deficiency characterized by recurrent respiratory tract infection like pneumonia and ear infection.
9. Most patients have Type 2 diabetes mellitus.
10. About 20% patients with bloom syndrome may develop malignancies like acute leukemia, lymphoma, and gastrointestinal adenocarcinoma.

How Bloom syndrome diagnosed?

Bloom syndrome is diagnosed by patient’s history; physical examination and lab test. Bloom syndrome is only confirmed by chromosomal study.

Is there a cure of bloom syndrome?

There is no cure of bloom syndrome but some treatment available that can effectively reduce the symptoms and complication of the disease. Avoiding sun exposure or using sunscreens can reduce some the skin changes associated with photosensitivity.  Some physician used growth hormone for short stature.  Recurrent infection can be treated with antibiotics. Consultations with oncologist and endocrinologist for cancer and diabetes patients respectively.

What is the prognosis?

Increased risk of premature death in the second or third decade secondary to malignancies. Photosensitivity and erythema improves with age

Reference:

• www.emedicinehealth.com
• emedicine.medscape.com
• www.medicinenet.com
• en.wikipedia.org
• www.nlm.nih.gov
• www.google.com/health

Filed Under: Pediatrics

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