Albinism

Group of genetic disorders with absent or reduced melanin pigment in skin, hair, and eyes due to melanin biosynthesis defects (e.g., tyrosinase enzyme deficiency).

• Causes lifelong visual impairment and greatly increases skin cancer risk from UV damage. Albinism is a high-yield example of genetics (often autosomal recessive vs X-linked) and melanin biology, and it must be recognized early to prevent complications with sun protection and vision support.

• Oculocutaneous albinism (OCA): Noticed at birth with snow-white or extremely fair skin and hair, and light-colored eyes (blue/gray appearing red in light). Infants develop nystagmus, reduced visual acuity, and photophobia due to lack of ocular melanin.
• Sun sensitivity: Skin does not tan and burns easily. By childhood, sun-exposed areas show freckling, solar keratoses, and eye damage if unprotected. Skin cancers (squamous cell carcinoma, basal cell carcinoma, melanoma) often occur at a young age without rigorous UV protection.
• Ocular albinism (OA): Primarily eye findings (nystagmus, poor vision, strabismus) with relatively normal skin and hair pigmentation. X-linked inheritance (affects mainly males); carriers (females) may have mild iris translucency but normal appearance.

1. Diagnose clinically by the characteristic hypopigmentation and eye findings. Genetic testing can identify the specific mutation (OCA1–OCA7 or OA1), but diagnosis is usually evident on exam.
2. Distinguish albinism from other causes of hypopigmentation: in albinism, melanocytes are present (just unable to produce melanin), whereas conditions like vitiligo have melanocyte destruction. Diffuse involvement from birth suggests albinism; patchy or later-onset depigmentation suggests other causes.
3. Assess for syndromic features: inquire about easy bruising/bleeding (think Hermansky-Pudlak syndrome) or recurrent infections and neuropathy (think Chediak-Higashi syndrome). These rare syndromes include albinism plus systemic issues requiring special care.
4. Evaluate vision early: perform an ophthalmologic exam (check for nystagmus, iris translucency, foveal hypoplasia) and address refractive errors. Early intervention (glasses, vision therapy) can improve developmental outcomes.
5. Counsel on inheritance: Most OCA types are autosomal recessive (parents are carriers, 25% recurrence risk). Ocular albinism is X-linked recessive (usually only males affected; female carriers are generally unaffected). Provide genetic counseling for family planning.

1. Sun protection is critical: avoid intense sun exposure, use high-SPF broad-spectrum sunscreen daily, wear protective clothing, hats, and UV-blocking sunglasses.
2. Optimize vision: Refer to ophthalmology early for corrective glasses or contact lenses, tinted lenses for photophobia, and possible surgery for strabismus. Low-vision aids and educational support (e.g. seating in front of class, large-print materials) help accommodate visual impairment.
3. Skin surveillance: Have regular dermatologic exams to monitor for precancerous changes or skin cancers. Treat any lesions promptly. There is no cure to restore pigment, so management focuses on protection and supportive care. Encourage normal social integration and provide genetic counseling for the family.

• In albinism, the number of melanocytes is normal – they just can't produce melanin. In vitiligo (autoimmune), melanocytes are gone.
• Ocular albinism is X-linked (only eyes affected, mostly in males), whereas oculocutaneous albinism is typically autosomal recessive (affecting skin, hair, and eyes in both sexes).
• Albinism with bleeding issues suggests Hermansky-Pudlak syndrome; albinism with frequent infections suggests Chediak-Higashi syndrome.

• Any new or changing skin lesion in an albinism patient should raise concern for skin cancer (melanoma, SCC) – prompt dermatologic evaluation is needed.
• Signs like unexpected bruising, bleeding, or severe infections in someone with albinism – evaluate for a syndromic form (e.g., Hermansky-Pudlak or Chediak-Higashi) that warrants specialized management.

1. Fair-haired, pale-skinned infant with ocular findings (nystagmus, strabismus) → suspect albinism.
2. Differentiate type: Skin + eye involvement in both sexes → oculocutaneous albinism; primarily eye involvement in a male → ocular albinism.
3. Check for syndromic clues: bleeding tendency (think HPS) or recurrent infections/neuro symptoms (think CHS).
4. Confirm diagnosis/subtype with genetic testing if uncertain (OCA gene panel or specific mutation tests), especially if it will guide family counseling.
5. Management: Educate family on rigorous sun avoidance/protection, initiate ophthalmology care for vision support, and schedule regular skin checks for life.

• Newborn with white hair, very pale skin, and horizontal nystagmus on exam → Oculocutaneous albinism (AR tyrosinase gene defect).
• Teenager with oculocutaneous albinism develops a non-healing, ulcerated lesion on the face → likely squamous cell carcinoma of the skin (due to cumulative sun exposure).
• 5-year-old boy with normal skin and hair but congenital nystagmus and reduced vision; his maternal uncle has the same condition → Ocular albinism (X-linked recessive).