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Patient Case: Generalized Hypopigmentation (Albinism)

Patient Case: Generalized Hypopigmentation (Albinism)

Discussion

A 7-year-old boy is brought to a pediatric dermatologist by his parents due to progressive lightening of his skin since infancy. His skin appears uniformly pale, and his hair has a light blond appearance. His parents note that he often squints in bright light and has difficulty seeing at night. There is no history of skin rash, scaling, or recent illness.

On physical examination, he has diffused hypopigmentation of the skin, hair, and irises, along with nystagmus (involuntary eye movements) and reduced visual acuity. A slit-lamp examination reveals foveal hypoplasia, which is commonly associated with ocular involvement in albinism.

Given his clinical presentation, he is diagnosed with oculocutaneous albinism (OCA), a genetic condition caused by defective melanin production. His parents are counseled on lifelong sun protection measures to prevent skin damage and the importance of regular ophthalmologic evaluations for vision support.

Questions
  1. What is the most likely diagnosis in this child?
    a) Vitiligo
    b) Pityriasis alba
    c) Oculocutaneous albinism (OCA)
    d) Tuberous sclerosis
  2. What is the primary cause of this condition?
    a) Autoimmune destruction of melanocytes
    b) Defective melanin production due to genetic mutations
    c) Chronic fungal infection
    d) Nutritional deficiency
  3. Which associated finding is most commonly seen in this condition?
    a) Café-au-lait spots
    b) Nystagmus and reduced visual acuity
    c) Hyperpigmented macules
    d) Oral leukoplakia
  4. What is the most important long-term management strategy for this patient?
    a) Systemic corticosteroids
    b) Antifungal therapy
    c) Lifelong sun protection and regular ophthalmologic evaluations
    d) Phototherapy
Reveal answers

Answers

  1. (c) Oculocutaneous albinism (OCA)
    • The generalized hypopigmentation of skin, hair, and eyes along with visual abnormalities (nystagmus, poor vision) is characteristic of OCA, a genetic disorder affecting melanin production.
  2. (b) Defective melanin production due to genetic mutations
    • OCA is caused by mutations in genes responsible for melanin synthesis, such as the TYR gene, leading to reduced or absent melanin in the skin, hair, and eyes.
  3. (b) Nystagmus and reduced visual acuity
    • Ocular involvement (nystagmus, foveal hypoplasia, photophobia) is a key feature of OCA, as melanin is essential for normal eye development and vision.
  4. (c) Lifelong sun protection and regular ophthalmologic evaluations
    • Sun protection (sunscreen, protective clothing) reduces the risk of skin cancer, while ophthalmologic care helps manage visual impairments common in OCA.