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Healthy 29-Year-Old Man With a Petechial Rash: Answer.

DISCUSSION The histopathologic findings were classic for scurvy or ascorbic acid deficiency. On requestioning, the patient admitted to a much poorer diet than he had originally claimed, with near absence of fresh fruits and vegetables. He also admitted to a 3-week history of gum bleeding when he brushed his teeth. His gum bleeding resolved quickly with 500-mg daily oral vitamin C supplementation (daily requirement for an adult male is 90 mg),1 and his petechial rash and ecchymoses improved slowly over the course of the month after hospital discharge. Scurvy is the clinical syndrome resulting from ascorbic acid deficiency, and the pathologic findings are mostly due to impaired collagen synthesis, as vitamin C is a required cofactor for prolyl hydroxylase and lysyl hydroxylase. These 2 enzymes are responsible for hydroxylation of proline and lysine in collagen, which is necessary for proper crosslinking.2 Without sufficient vitamin C intake for as little as 3 months, the syndrome emerges and is characterized initially by fatigue, malaise, and possibly myalgias and arthralgias before developing the classic follicular-based petechial rash of the lower extremities. Patients may also present with ecchymosis—notably of the posterior legs—gingival bleeding, and subungual hemorrhages.3 Late-stage signs include liver failure and jaundice, anasarca, neuropathy, and encephalopathy; however, the disease is rapidly reversed in earlier stages with appropriate ascorbic acid supplementation. The gold standard for diagnosis is a serum or leukocyte ascorbate level; however, the results can take up to a week, and false-negative results are common if even small amounts of vitamin C are consumed in the 24 hours proceeding specimen collection.4 At the stage of disease with rash development, skin biopsy is both highly sensitive and specific. Although often considered an antiquated disease entity, reports have emerged documenting disease resurgence in western countries.5 Traditional risk factors for disease include alcoholism, mental illness, and intestinal malabsorption; however, the relatively recent increase in disease incidence is believed to be due to the emerging popularity of restrictive/selective diets in adulthood (low-carbohydrate and ketogenic diets) as well as in children, either enforced by parents (eg, dietary restriction due to allergies) or children (eg, autism).6 Still, disease can emerge in the setting of nonspecific poor diet alone, as demonstrated by this case, and should be included in the clinical and histologic differential diagnosis for patients of all ages presenting with lower extremity follicular-based, nonpalpable purpuric rash.