What is Bloom syndrome?
Bloom syndrome, like xeroderma pigmentosum, is another disease where our genetic material can become broken. However, in Bloom syndrome, the genetic material can break and rearrange itself many times.
Bloom syndrome is autosomal recessive, meaning that both parents must be carriers for a child to be affected. This means that although the parents do not have the disease, they still have the defective gene and hence can pass it on to their children. If both parents are carriers, there is a 25 % chance that the child will be affected.
The main signs and symptoms of Bloom syndrome include:
- a reddened “butterfly rash” that extends over the cheeks and bridge of the nose after the patient's first exposure to the sun. Reddened areas can also be seen on other areas which are exposed to the sun, such has hands.
- a high pitched voice
- changes in the shape of the face, such as a long face and a small lower jaw, as well as large ears and a prominent nose
- changes in skin colour – areas may be darker or lighter than normal
- cafe-au-lait spots, which are flat, demarkated, usually oval, and light to medium brown in colour
- a weakened immune system (immunodeficiency)
- dilated blood vessels which can be seen on the skin and sometimes the eyes (telangiectasis)
- infertility in males and subfertility (meaning that they are less fertile than normal) and premature menopause in women
People suffering from Bloom syndrome also have in increased susceptibility to tumours and cancers. These cancers can be of any type, and usually occur at a much earlier age (the average age for cancer in people with Bloom syndrome is 25 years, most cancers or tumours in unaffected people are rare before the age of 50)
Photosensitivity Guide Index:
- What is photosensitivity?
- What are some photosensitive dermatoses caused by drugs or other chemicals?
- What are phototoxic reactions?
- What are photoallergic reactions?
- What is photocontact dermatitis?
- What are genetic and metabolic metabolic photosensitive dermatoses?
- What is pellagra?
- Who gets pellagra?
- What are some signs and symptoms of pellagra?
- What are porphyrias?
- What are acute porphyrias?
- What are cutaneous porphyrias?
- What is xeroderma pigmentosum?
- What is Bloom syndrome?
- What is Cockayne syndrome?
- What are photoaggravated dermatoses?
- What is atopic eczema?
- What is psoriasis?
- What is lichen planus?
- What is lupus erythematosus?
- What is dermatomyositis?
- What is actinic folliculitis?
- What is disseminated superficial actinic porokeratosis?
- What are acquired idiopathic photosensitive dermatoses?
- What is polymorphic light eruption?
- What is chronic actinic dermatitis?
- What is solar urticaria?
- What is actinic prurigo?
- What is hydroa vacciniforme?
- What is juvenile spring eruption?
- Allergy Treatment
- Bee Stings
- Cow's Milk Allergy
- Drug Allergies
- Egg Allergies
- Food Allergies
- Hives And Urticaria
- House dust Mite Allergy
- Latex Allergies
- Mould Allergies
- Poison Plant Allergies
- Peanut Allergy
- Pet Allergies
- Seafood Allergies
- Shellfish Allergy
- Soya Allergy
- Tree Nut Allergy
- Wheat Allergies