The use of dihydroxyacetone for photoprotection in variegate porphyria.

A 33-year-old woman presented with complaints of facial scarring, blisters on the dorsal hands, skin fragility, and increased hair growth on the temples. She reported that these “scratch marks” had appeared spontaneously for 3 years. She was otherwise healthy and not on any medication. On examination, the patient had several 3–4-mm erythematous papules, some with depressed centers, on the dorsal aspects of the hands ( Fig. 1) and the face, but no observable milia. In the perioral region, there were numerous depressed pock-like scars. There was no obvious hypertrichosis. Figure 1. Erythematous papules with depressed centers on the dorsal hand Download figure to PowerPoint A punch biopsy specimen obtained from the left forearm revealed an ulcer with acute and chronic inflammation and periodic acid–Schiff (PAS)-positive material around the dermal blood vessels and adnexae ( Fig. 2). Direct immunofluorescence analysis revealed linear immunoglobulin G (IgG) (2 + ) along the epidermal and adnexal basement membrane zone and around the blood vessels ( Fig. 3). C3 (2 + ) was also present at the epidermal basement membrane zone and around papillary dermal vessels. Figure 2. Hematoxylin and eosin examination (100 × ) revealed an ulcer with inflammatory infiltration and PAS-positive material around the dermal blood vessels and adnexae Download figure to PowerPoint Figure 3. Direct immuno-fluorescence analysis revealed immunoreactivity to IgG and C3 in a linear pattern along the epidermal and adnexal basement membrane zone as well as around blood vessels Download figure to PowerPoint The patient had a positive hepatitis A antibody, but was negative for hepatitis B and C. Complete blood count and liver function tests were within normal limits. Iron, ferritin, and total iron binding capacity levels were all within normal limits. Antinuclear antibody was positive at 1:160 with a speckled pattern, but anti-Ro and anti-La were within normal limits. Total plasma porphyrins measured 4 (normal ≤ 1). A 24-h stool porphyrin collection showed diffuse elevations as follows: coproporphyrin 307.0 (0–50), uroprophyrin 5.00 (0–4), protoporphyrin 515.0 (0–105), total stool porphyrins 827.0 (0–159). A 24-h urine porphyrin collection also revealed elevations of all the metabolites as follows: porphobilinogen 22.4 (0–2.7), coproporphyrin 2211.0 (0–155), uroprophyrin 122.1 (3.3–29.5), heptacarboxylporphyrin 35.2 (0–6.8), hexacarboxylporphyrin 21.3 (0–0.9), pentacarboxylporphyrin 120.8 (0–4.7), total urine porphyrins 2510.4 (12–190). The patient’s plasma was diluted with phosphate-buffered saline and scanned between 550 and 650 nm at an excitation wavelength of 405 nm. The emission maximum occurred at 630 nm. In spite of a clinical appearance suggestive of porphyria cutanea tarda (PCT), without any history of acute abdomen or neurologic crises, the clinical diagnosis was clearly variegate porphyria (VP), based on the extensive laboratory abnormalities. At the time of diagnosis, the patient was provided with a list of medications which may exacerbate the condition and was instructed to practice vigorous sun protection at all times. Later, she started using a self-tanning lotion. She reported an excellent response to the combination of sunscreen and dihydroxyacetone-containing preparation with far fewer eruptions and a markedly increased tolerance to ambient sun exposure.