[Skip to Navigation]
Images in Dermatology
December 29, 2021

Late-Onset Congenital Erythropoietic Porphyria

Author Affiliations
  • 1Department of Dermatology, Wan Fang Hospital, Taipei Medical University, Taipei, Taiwan
  • 2Division of Hematology and Oncology, Department of Medicine, Cancer Center, Wan Fang Hospital, Taipei Medical University, Taipei, Taiwan
  • 3Department of Dermatology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan
  • 4Research Center of Big Data and Meta-analysis, Wan Fang Hospital, Taipei Medical University, Taipei, Taiwan
JAMA Dermatol. 2022;158(2):203. doi:10.1001/jamadermatol.2021.5005

A previously healthy 71-year-old man presented with painful blisters and erosions that appeared after he started farming 6 months prior. Physical examination showed clear vesicles and erosions on his dorsal hands (Figure, A), upper chest, ears, and neck. The patient’s urine was dark purple and showed pink fluorescence under a Wood lamp (Figure, B; the sample on the left was from the patient, while the right one was from a healthy control). Based on the photo-distributed vesicles and characteristic urine fluorescence, cutaneous porphyria was suspected. Skin biopsy results revealed a subepidermal blister with sparse inflammatory infiltrates and hyalinized vessels in the papillary dermis. The urine sample showed markedly elevated coproporphyrin levels and mildly elevated uroporphyrin levels, with predominance of isomer I. The maximum plasma fluorescence was 616 nm. The findings were consistent with congenital erythropoietic porphyria (CEP). He also had marked anemia, leukopenia, and thrombocytopenia. Biochemical analysis results of his peripheral blood revealed elevated bilirubin, elevated lactate dehydrogenase, and decreased haptoglobin levels, suggesting the presence of hemolytic anemia. Bone marrow aspiration and biopsy showed results compatible with myelodysplastic syndrome. A cytogenetic study revealed trisomy 8.

Add or change institution