ABIM Exam Review Practice Question of the Week: 55-year old male with blistered skin
55-year-old male presents to his primary care physician’s office with blistering of his skin in sun exposed areas. The primary care physician is perplexed and decides to refer the patient to a dermatologist. After careful review, the dermatologist concludes that patient has a condition associated with uroporphyrinogen decarboxylase (UROD) deficiency. All of the following scenarios or descriptions of conditions can be exacerbating factors for the underlying condition caused by UROD deficiency except:
A. Condition associated with ATP7B gene mutation
B. Estrogen use
C. Condition with elevated carbohydrate free transferrin levels that can lead to cirrhosis
D. Condition associated with HFE gene mutation
E. Hepatitis infection that is commonly associated with cryoglobulinemia
Patients with a uroporphyrinogen decarboxylase (UROD) deficiency will most likely develop porphyria cutanea tarda (PCT), the most common form of porphyria. It often presents as blisting skin lesions over sun-exposed areas like the hands and face. Another possible skin manifestation is facial hypertrichosis or excessive hair growth.
Choice B (Estrogen use), Choice C (Chronic alcohol use), Choice D (Hemochromatosis) and Choice E (Hepatitis C infection) are all exacerbating conditions for PCT.
Choice A (Condition associated with ATP7B gene) is describing Wilson’s disease, which is not an exacerbating condition or factor for PCT.
You can see all the previous ABIM Exam Review Questions of the Week at the Knowmedge Blog. You can find also additional topics and questions directly from the Knowmedge Internal Medicine ABIM Board Exam Review Questions QVault.