A 40-year-old woman presents with a history of fever, seizures, photophobia, and poliosis of her eyebrows. The most likely explanation is:
A. Antibody-mediated autoimmune disorder similar to Lupus
B. T-cell mediated autoimmune disorder
C. Genetic abnormality in lysosomal trafficking
B. Vogt-Koynagi-Harada is a T-cell mediated autoimmune disorder that may be related to molecular mimicry following infection. Stages include a prodrome, ophthalmic and auditory stage, and poliosis stage.
Which type of oculocutaneous albinism presents with mahogany, red-brown colored skin?
D. Oculocutaneous albinism type 3 presents with a mahogany, red-brown coloration of the skin. Mutations are found in the TYRP1 gene (Tyrosinase-related protein 1).
Axillary reticular hyperpigmentation with increased melanosomes is related to a mutation in which gene:
A. Dowling-Degos has been associated with KRT 5 mutations. It is characterized clinically by reticulate hyperpigmentation in the flexures and comedo-like lesions with pitted scars. Galli-Galli disease is the acantholytic variant of this disease.
A 14-year-old patient presents with numerous ephelides, blue nevi, cutaneous myxomas and a history of endocrine abnormalities. Which gene mutation has been associated with this disease?
D. Carney complex consists of an autosomal dominant syndrome featuring lentigines, blue nevi, endocrine disorders, testicular tumors, and myxomatous masses of the heart, skin, and breasts. Mutations in the PRKAR1A have been identified.
Spitz nevi have been associated with genetic abnormalities in which of the following?