Review Question - QID 109004

This patient is presenting with swollen/bleeding gums and kinky hair with perifollicular hemorrhage suggesting a diagnosis of vitamin C deficiency (scurvy).

Scurvy classically occurs due to inadequate consumption of vitamin C which leads to impaired hydroxylation of collagen. This can lead to swollen/bleeding gums (Figure A), bruising, petechiae, hemarthrosis, anemia, poor wound healing, as well as perifollicular hemorrhage with corkscrew hairs (Figure B). Treatment for these patients is vitamin C replacement with either diet or supplements.

Figure A demonstrates scorbutic gums, a symptom of scurvy. Note the gingival redness in the area between the teeth. Figure B demonstrates the kinky hair and perifollicular hemorrhage that occurs in scurvy.

Incorrect Answers:
Answer 1: Vitamin B1 (thiamine) deficiency can lead to beriberi which presents with congestive heart failure (wet), edema, and peripheral neuropathy. This patient is not experiencing these symptoms.

Answer 2: Vitamin B9 (folate) deficiency presents with a megaloblastic anemia. Though this patient is anemic, it is a microcytic anemia.

Answer 4: Total calorie deficiency defines the disease marasmus. Patients will typically not have edema in marasmus and will have significant muscle wasting.

Answer 5: Protein consumption deficiency defines kwashiorkor which can present with skin lesions and edema (decreased plasma oncotic pressure) and fatty liver change (from decreased lipoprotein synthesis). Though this patient does have a distended abdomen and is small for his age, there are no other symptoms suggesting a diagnosis of kwashiorkor.

Bullet Summary:
Vitamin C deficiency (scurvy) presents with swollen/bleeding gums, bruising, petechiae, hemarthrosis, anemia, poor wound healing, as well as perifollicular hemorrhage with corkscrew hairs.