Skin rash

A 67-year-old woman presented to the dermatology department with a 2-year history of a generalized skin rash. She also reported concerns with her vision and constant tearing from both eyes. She had no past medical history of any skin conditions. Her past medical history was notable for smoking, hypothyroidism for which she was treated with levothyroxine, and invasive ductal carcinoma of the right breast 2 years prior for which she underwent a right-sided mastectomy and was treated with tamoxifen. She did not require any chemotherapy or radiation for her breast cancer. Her family history was notable for a sister with breast cancer and a daughter with vitiligo.

Cutaneous examination revealed: significant sclerodermatous changes of the entire head, neck, and upper trunk; multiple atrophic, sclerotic plaques of the neck and face; extensive ichthyotic patches on the limbs and trunk; diffuse alopecia; and erythema of the sclera with erosions and ectropion of the lower lids bilaterally. Sclerodactyly was not present. The patient reported that she infrequently developed a few erosions to her arms and/or lower legs. She denied skin fragility and/or blisters of the hands.

Laboratory findings included a normocytic anaemia with an Hgb of 111 g/L, an elevated ferritin of 684 μg/L, and slightly elevated aspartate aminotransferase. Hepatitis C, hepatitis B, and HIV testing were negative. An immunologic panel including antinuclear antibody, extractable nuclear antigens, anti-double stranded DNA, anti-histone antibodies, and anti-Scl-70 was negative. Quantitative porphyrins from a 24-h urine collection revealed uroporphyrin I of 1,947 (< 46 nmol/day), uroporphyrin III of 594 (< 20 nmol/day), elevated coproporphyrin III of 117 (15–242 nmol/day), and elevated hepatocarboxylic, hexacarboxylic, and pentacarboxylic porphyrins. HFE testing for hemochromatosis found a mutation in the H63D gene.