Related articles: Albinism
Definition
Albinism is a pathological condition characterized by widespread or partial hypopigmentation of the skin, hair and eyes. The cause is attributable to a defect in the synthesis of melanin, transmitted as a hereditary character. This pigment is therefore absent or considerably reduced, despite the fact that the melanocytes are present in normal numbers.
There are several genetic forms of albinism, which present themselves with various phenotypes.
Oculo-cutaneous albinism manifests itself with reduced pigmentation of the skin, hair, hair and eyes.
The generalized form of the disease, on the other hand, affects the whole body and is characterized by milky-white skin, straw-colored blond hair or white and bluish-gray or pinkish eyes.
Finally, the partial form is located in a portion of skin or a tuft of hair.
Most common symptoms and signs *
- gray hairs
- Skin discoloration
- Erythema
- Fotofobia
- Freckles
- Atypical snows
- Nystagmus
- Misaligned eyes
- Reduced vision
Further indications
Due to the absence or reduction of melanin, albinos show more or less severe visual disturbances. Ocular involvement causes signs and symptoms such as light intolerance (photophobia), strabismus, uncontrolled movements of the eye (nystagmus) and reduction in visual acuity. Ocular albinism can also appear without skin anomalies.
Albino subjects are more susceptible to premature skin aging and sunburn. Moreover, they present a greater risk of developing skin cancers, as melanin has no protective action against solar radiation.
The diagnosis of albinism is based on family history and the evaluation of clinical features. Confirmation is obtained with genetic analysis.
There are no treatments for albinism. Patients should avoid direct sunlight, wear protective clothing, use sunglasses and apply sunscreens with an SPF ≥ 30 that protect against UVA and UVB rays.
