Dermatology Flashcards
1
Q
Congenital erythropoietic porphyria (CEP)
A
Rarest type of porphyria and is commonly seen in infancy. Severe skin photosensitivity that may lead to scarring, blistering, and increased hair growth at the face and back of the hands.
Hypertrichosis (excessive hair growth), reddish discoloration of the teeth, anemia, and reddish-colored urine
defect in the synthesis of heme within the red blood cells of bone marrow. This defect leads to an increase in the buildup and, therefore, waste of porphyrin and its precursors
Autonomic recessive. UROS gene
2
Q
solar urticaria
A
Chronic inducible urticaria in which the skin swells within minutes of exposure to natural sunlight or an artificial light source emitting ultraviolet radiation.
