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Dermatology (Skin Conditions)

Albinism

A group of inherited congenital disorders characterized by complete or partial absence of melanin pigment in the skin, hair, and eyes, due to defects in melanin production.

Also known as: Oculocutaneous Albinism (OCA)

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Referral and warning signs

When to refer

Refer ALL individuals with albinism to: Ophthalmology for comprehensive eye assessment and vision care. Dermatology for skin surveillance and sun protection advice/management.

Red flags

  • Any new or changing skin lesion (potential skin cancer).
  • Severe sunburn.
  • Significant worsening of vision.

Signs and symptoms

  • Skin: Very pale/white skin, highly susceptible to sunburn.
  • Hair: White, yellowish, or light brown hair.
  • Eyes (Ocular Albinism features always present in OCA):
  • - Reduced visual acuity (often significant).
  • - Nystagmus (involuntary eye movements).
  • - Photophobia (light sensitivity).
  • - Strabismus (squint).
  • - Iris translucency (light passes through iris).
  • - Foveal hypoplasia (underdevelopment of central retina).
  • - Reduced retinal pigment.
  • - Abnormal decussation of optic nerve fibres at chiasm.
  • - Significant refractive errors (astigmatism, hyperopia).

Risk factors

  • Genetic inheritance (usually autosomal recessive).
  • Family history of albinism.

Diagnosis

Clinical assessment

Diagnosis based on characteristic phenotype (hypopigmentation of skin, hair, eyes) and associated ocular findings (nystagmus, reduced vision, iris translucency, fundus hypopigmentation).

Investigations

  • Clinical examination by dermatologist and ophthalmologist.
  • Genetic testing (can identify specific gene mutation - specialist).

Diagnostic criteria

Clinical phenotype. Genetic testing confirms specific type.

Management

Non-pharmacological management

  • Sun Protection (Lifelong & CRITICAL):
  • - Sun Avoidance: Seek shade, limit outdoor activities during peak sun hours (10am-4pm).
  • - Protective Clothing: Long sleeves, trousers, wide-brimmed hats.
  • - Sunscreen: High SPF (30-50+), broad-spectrum (UVA/UVB) sunscreen applied generously and regularly to all exposed skin.
  • Eye Care:
  • - Ophthalmology assessment: Regular checks for vision correction and monitoring.
  • - Vision Correction: Prescription spectacles or contact lenses for refractive errors.
  • - Low Vision Aids: Magnifiers, telescopes if needed.
  • - Tinted glasses / UV-blocking sunglasses: For photophobia.
  • - Preferential seating in school.
  • Skin Surveillance:
  • - Regular skin self-examination and professional skin checks (annually or more often) to detect pre-cancerous lesions (actinic keratoses) or skin cancers (SCC, BCC, melanoma) early.
  • Psychosocial Support & Education: Address stigma, discrimination, bullying. Promote self-esteem. Link with support groups/organizations.

Pharmacological treatment

  • Treatment of actinic keratoses (e.g., topical 5-Fluorouracil, cryotherapy - specialist).
  • Treatment of skin cancers (surgical excision, other therapies - specialist).

Monitoring

Regular ophthalmology review. Regular dermatology skin surveillance.

Complications

  • Severe sunburn.
  • Actinic Keratoses (pre-cancerous lesions).
  • High risk of Skin Cancers: Squamous Cell Carcinoma (SCC), Basal Cell Carcinoma (BCC), Malignant Melanoma - often occur at younger age than general population.
  • Visual impairment.
  • Social stigma, discrimination, violence.

Prevention

  • Primary prevention not possible (genetic).
  • Secondary Prevention (of complications): Strict sun protection, regular skin/eye checks.
  • Genetic counseling for affected families.

Patient education

  • Explanation of albinism as a genetic condition affecting pigment.
  • CRITICAL importance of lifelong, rigorous sun protection (avoidance, clothing, HATS, SUNSCREEN).
  • How to correctly apply sunscreen.
  • Importance of regular eye exams and vision correction.
  • Importance of regular skin checks (self and professional).
  • Recognizing suspicious skin lesions.
  • Addressing psychosocial issues and seeking support.

Uganda-specific notes

Albinism occurs in Uganda. Individuals face significant sun exposure risks leading to high rates of skin cancer if protection inadequate. Stigma, discrimination, and violence are major social issues. Access to sunscreen, protective clothing, eye care, low vision services, and cancer treatment is often very limited. Advocacy and support groups are vital.

References

  • Uganda Clinical Guidelines (UCG) 2023

    Chapter 22, Section 22.8 (Brief mention)

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