Dermatology MOC Sample Questions

The correct answer is E. Hermansky-Pudlak Syndrome

Explanation: Hermansky-Pudlak Syndrome is characterized by autosomal recessive inheritance, HPS gene mutation (lysosomal transport protein), pigment dilution, pigmented nevi, increased squamous/basal cell cancer, photophobia, prolonged bleeding, and ceroid (chromolipid) deposition in macrophages in the lung (pulmonary fibrosis), gastrointestinal tract (granulomatous colitis) and heart (cardiomyopathy).

Oculocutaneous Albinism Type II is characterized by autosomal recessive inheritance, mutation in P gene with decreased eumelanin synthesis, generalized pink-white/cream color, blue to yellow-brown irides, nystagmus, photophobia, pigmented nevi, and increased squamous/basal cell carcinoma.

Griscelli Syndrome is characterized by autosomal recessive inheritance, mutations in Rab 27A and MyO5A (myosin V), silvery hair, partial albinism, pancytopenia with increased infections, progressive neurologic deterioration.

Chediak-Higashi Syndrome is characterized by autosomal recessive inheritance, LYST gene mutation, light blond/silvery hair, oculocutaneous albinism, ataxia, giant lysosomal granules, recurrent infections, photophobia, ataxia, muscle weakness, and other hematologic abnormalities.

Piebaldism is characterized by autosomal dominant inheritance, mutation in c-kit proto-oncogene, depigmented patches with islands of hyperpigmentation and white forelock.