Learning Objective

Describe the key causes, clinical features, and genetic forms of hypopigmentation, including vitiligo and albinism.

Vitiligo

• Presentation: Irregular, well-demarcated, completely depigmented skin patches.
• Epidemiology: Common, can affect any race, sometimes familial.
• Etiology: Likely autoimmune, exact cause unknown.
• Microscopic Feature: Affected epidermis lacks melanocytes.

Albinism

A heterogeneous group of inherited disorders causing congenital hypopigmentation; diagnosis relies on molecular/genetic testing.

Oculocutaneous Albinism (OCA)

• Autosomal recessive.
• Hypopigmentation of skin, hair, and eyes.
• Increased risk of skin cancer.

Syndromic Albinism

• Albinism with systemic pathology
• Example: Chediak-Higashi syndrome — defective melanin packaging, immunodeficiency, shortened life expectancy.

X-linked Ocular Albinism

• Hypopigmented iris.
• Nystagmus and decreased visual acuity.

Activity

Clinical Notes

• Hypopigmentation may be cosmetically significant.
• Systemic involvement suggests syndromic forms of albinism.
• Genetic counseling may be indicated for affected families.

Activity