A case of cutaneous collagenous vasculopathy associated with multiple myeloma and with a pathogenic variant of the glucocerebrosidase gene
Language English Country United States Media print-electronic
Document type Case Reports, Journal Article
PubMed
35294059
DOI
10.1111/cup.14227
Knihovny.cz E-resources
- Keywords
- bortezomib, cutaneous collagenous vasculopathy, direct immunofluorescence, glucocerebrosidase gene, multiple myeloma,
- MeSH
- Transplantation, Autologous MeSH
- Bortezomib therapeutic use MeSH
- Fibrinogen therapeutic use MeSH
- Glucosylceramidase therapeutic use MeSH
- Skin Diseases, Vascular * pathology MeSH
- Humans MeSH
- Multiple Myeloma * complications drug therapy genetics MeSH
- Antineoplastic Combined Chemotherapy Protocols therapeutic use MeSH
- Aged MeSH
- Telangiectasis * pathology MeSH
- Hematopoietic Stem Cell Transplantation * MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Aged MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Names of Substances
- Bortezomib MeSH
- Fibrinogen MeSH
- Glucosylceramidase MeSH
Cutaneous collagenous vasculopathy (CCV) is an extremely rare acquired microangiopathy of unknown etiology. The authors describe a case of a 68-year-old man, a carrier of a heterozygous pathogenic variant of the glucocerebrosidase (GBA) gene, who was diagnosed with CCV, revealing uncommon fibrinogen positivity in direct immunofluorescence. The patient was subsequently diagnosed with multiple myeloma. Treatment of the myeloma with combined chemotherapy including bortezomib, followed by autologous stem cell transplantation, led to significant reduction of cutaneous lesions. To the best of the authors' knowledge, this is the first published case of CCV in a carrier of a pathogenic variant of the GBA gene, associated with multiple myeloma and with significant regression of CCV after myeloma treatment. Direct immunofluorescence examination revealed an unusual fibrinogen deposition. Hypothetical causative role of bortezomib treatment was proposed regarding significant regression of CCV.
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