A case of cutaneous collagenous vasculopathy associated with multiple myeloma and with a pathogenic variant of the glucocerebrosidase gene

Abstract

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.

Cutaneous Collagenous Vasculopathy With Ocular Involvement

“…1,2,6 One case of mucosal involvement was described in a patient with glossitis and oral erosions. 8 We found no prior reports of nail or eye changes. 1,2 The etiology of CCV is unknown, but different theories have been proposed.…”

“…The most common comorbidities are hypertension, cardiovascular disease, diabetes mellitus, and hyperlipidemia. 1,3,[6][7][8] The presentation of CCV with a malignancy is rare; 1 patient was diagnosed with multiple myeloma 18 months after CCV, and another patient's cutaneous presentation led to discovery of pancreatic cancer with metastasis. 8,10 In this setting, the increased growth factors or hypercoagulability of malignancy may play a role in endothelial cell damage and hyperplasia.…”

Cutaneous Collagenous Vasculopathy: A Short Case Series and Literature Review

“…There were also 2 cancer cases that we believed were of particular interest. Dura et al 17 report that chemotherapy and stem cell transplantation resulted in both partial remission of their patient's myeloma and a “significant reduction” in telangiectasias present—indeed, after the treatment was finished, they noted that rashes were only present on the forearms. Contrastingly, the patient of Holder et al 16 underwent chemotherapy for a pancreatic adenocarcinoma; unfortunately, there was no therapeutic response, and the patient died.…”

TEMPI syndrome: A clinical, light‐microscopic and phenotypic evaluation with review of the literature

“…Cutaneous collagenous vasculopathy (CCV) was a diagnostic consideration initially, and indeed CCV has recently been described in a patient with multiple myeloma. 13 In a previous paper we reported on the pathology and pathophysiology of CCV, 14 we emphasized the role of endothelial cell injury in lesional pathogenesis, potentially accounting for microvascular deposits of C5b-9 and the striking degree of basement membrane F I G U R E 3 (A) CD117 stain demonstrating interstitial and perivascular mast cells (Â200). (B, C) Type IV collagen stain highlighting the vascular basement membrane zones as does the PAS stain; there appears to be mild to moderate reduplication of the vascular basement membrane zones but not to the magnitude characteristic for collagenous vasculopathy (Â400).…”

“…The histopathology in our case was one of superficial vascular ectasia with some degree of basement membrane zone reduplication associated with focal microvascular deposits of C5b‐9. Cutaneous collagenous vasculopathy (CCV) was a diagnostic consideration initially, and indeed CCV has recently been described in a patient with multiple myeloma 13 . In a previous paper we reported on the pathology and pathophysiology of CCV, 14 we emphasized the role of endothelial cell injury in lesional pathogenesis, potentially accounting for microvascular deposits of C5b‐9 and the striking degree of basement membrane zone reduplication, an established reparative response to complement‐mediated endothelial cell injury.…”