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Pathology definition - Albinism
Albinism
Albinism may present with hypopigmentation of the skin. Patient may appear with a fair/white skin. Albinism may also affect the eyes and hair. Albinism which affect the eye is known as ocular albinism. Ocular albinism may lead to loss of vision. Besides that albinism may also affect the hair.
Albinism occurs as a result of inability of the melanocytes to produce melanin. This commonly occur due to deficiency in the uptake of the tyrosine into the melanocytes. Albinism may also occur due to deficiency of the tyrosinase. Albinism may also be associated with defective in the migration of the neural crest cells.
Albinism is differ from vitiligo as melanocytes is present in the skin in case of albinism. Patient who suffer from albinism may required sun protection as there is a greater risk of developing skin cancer as well as actinic keratosis.
References
1.Creel, D., F. E. O’Donnell, and C. J. Witkop. “Visual System Anomalies in Human Ocular Albinos.” Science 201, no. 4359 (September 8, 1978): 931–933. doi:10.1126/science.684419.
2.Ra, King, and Summers Cg. “Albinism.” Dermatologic Clinics 6, no. 2 (April 1988): 217–228.
Albinism may present with hypopigmentation of the skin. Patient may appear with a fair/white skin. Albinism may also affect the eyes and hair. Albinism which affect the eye is known as ocular albinism. Ocular albinism may lead to loss of vision. Besides that albinism may also affect the hair.
Albinism occurs as a result of inability of the melanocytes to produce melanin. This commonly occur due to deficiency in the uptake of the tyrosine into the melanocytes. Albinism may also occur due to deficiency of the tyrosinase. Albinism may also be associated with defective in the migration of the neural crest cells.
Albinism is differ from vitiligo as melanocytes is present in the skin in case of albinism. Patient who suffer from albinism may required sun protection as there is a greater risk of developing skin cancer as well as actinic keratosis.
References
1.Creel, D., F. E. O’Donnell, and C. J. Witkop. “Visual System Anomalies in Human Ocular Albinos.” Science 201, no. 4359 (September 8, 1978): 931–933. doi:10.1126/science.684419.
2.Ra, King, and Summers Cg. “Albinism.” Dermatologic Clinics 6, no. 2 (April 1988): 217–228.
