Albinism

21:53 - 4 May , 2021

Disease

What is Albinism?

It is a genetic anomaly that causes a partial or total pigment dysfunction because the body is unable to produce melanin, which is the pigment responsible for giving color to the eyes, skin, and hair, in addition to intervening in the optic nerve functions, therefore, those affected by albinism also suffer from visual difficulties. The lack of eye, skin, and hair pigmentation is the most obvious feature of albinos, but precisely because of it they are more vulnerable to solar radiation, which makes them more prone to developing skin cancer. Albinism is incurable, but there are a series of measures that can help minimize skin and visual effects. Melanocytes are the cells that produce melanin and when affected by a mutation, they generate various degrees of albinism, becoming partial or total. Albinism classification:
  • Oculocutaneous: it is the most frequent, it affects eyes, skin, and hair. Depigmentation is variable and depends on the degree of involvement.
  • Ocular: it only damages the eyes and affects mostly males.

Symptoms

Symptoms vary according to the level of depigmentation: 
  • Extremely white skin.
  • White or beige hair.
  • Cutaneous and capillary hypersensitivity.
  • Very light eyes in shades of blue or beige.
  • Translucent iris.
  • Cross-eye.
  • Photophobia.
  • Nystagmus.
  • Myopia.
  • Farsightedness.
  • Blindness.
In addition to visual complications and skin problems, people with albinism must endure social rejection and harassment, which can cause self-esteem difficulties, anxiety, and isolation.

Diagnosis and treatment

Once your doctor analyzes your child's symptoms and medical history, he or she will perform a detailed physical examination in which he or she will observe skin and capillary pigmentation, and the eyes’ condition, and will refer you to an ophthalmologist to perform a comprehensive eye exam. As for treatment, being genetic, albinism is incurable; due to this, efforts are focused on treating eye conditions, minimizing possible damage, and preventing skin problems. The treatment includes: 
  • Care of vision problems: your ophthalmologist should check you periodically to correct existing complications and try to prevent them from progressing. The techniques used range from the prescription of glasses to corrective surgeries.
  • Skin monitoring: continuous skin checks and care are especially important to prevent skin cancer, a pathology that albinos are susceptible to contracting due to their hypersensitivity.
At ABC Medical Center’s Internal Medicine Department, we offer health care services with the highest quality and safety, from the prevention, diagnosis, timely treatment, and monitoring of infectious, respiratory, endocrinological, dermatological, rheumatic, nephrological, gastrointestinal, and hematological pathologies of both chronic-degenerative diseases and acute conditions, through a comprehensive and multidisciplinary model.

Fuentes:

  • mayoclinic.org
  • medlineplus.gov
  • cun.es
  • topdoctors.es
  • cigna.com
  • medigraphic.com
  • Aviña FJA, Hernández ADA. Piebaldismo, albinismo parcial en cabello y piel. Rev Cubana Pediatr. 2014;86(1):93-97.
  • Licourt OD, Pereda CH, Pérez EY, et al. Piebaldismo: un desorden de la pigmentación. Presentación de un caso. Rev Ciencias Médicas. 2012;16(2):247-254.
  • Ramos B, Álvarez J, Sardinas S, et al. Síndrome de Hermansky-Pudlak . Rev Hematol Mex. 2019;20(1):49-53.
  • Paredes AR, López SN, Monsiváis OA, et al. Síndrome de Hermansky-Pudlak. Expresión clínica variable en dos casos clínicos. Bol Med Hosp Infant Mex. 2012;69(4):300-306.

						

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