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one of the main clinical features&#44; usually present as discrete nodules or pedunculated masses&#44; but cannot be presented as vasculitic skin purpura&#46;<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">3</span></a> Here&#44; we report a female patient with NF1 who demonstrated vasculitic skin rash&#46;</p><p id="par0010" class="elsevierStylePara elsevierViewall">A 56-year-old Japanese women with neurofibromatosis type 1 presented with new onset of microscopic hematuria&#44; abdominal pain&#44; and arthralgia&#46; Her past medical history included the left limb amputation due to a traffic accident and malignant peripheral nerve sheath tumours&#46; She had no previous history of renal disease and denied any use of tobacco or alcohol&#46; Upon physical examination&#44; her respiratory rate was 14 breaths per minute&#44; heart rate was 106 beats per minute&#44; blood pressure was 137&#47;85<span class="elsevierStyleHsp" style=""></span>mmHg&#44; and body temperature was 36&#46;7<span class="elsevierStyleHsp" style=""></span>&#176;C&#46; Notable examination findings included generalized neurofibromas&#44; palpable purpura on the right leg &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#44; and a slight tenderness at the epigastric area&#46; The musculoskeletal examination showed mild pain in the bilateral elbow joints&#46; Urinalysis showed &#62;100 erythrocytes per high-power field and 0&#46;54<span class="elsevierStyleHsp" style=""></span>g&#47;gCr of proteinuria&#46; The kidney function was normal &#40;blood urea nitrogen level&#44; 15&#46;6<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#59; serum creatinine level&#44; 0&#46;44<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#41;&#46; Renal biopsy revealed mild mesangial proliferation with granular Immunoglobulin A &#40;IgA&#41; deposition&#44; and skin biopsy showed leukocytoclastic vasculitis with IgA deposition&#46; The diagnosis of IgA vasculitis &#40;IgAV&#41; was made based on the European League Against Rheumatism&#44; the Paediatric Rheumatology International Trials Organizations&#44; and the Paediatric Rheumatology European Society &#40;EULAR&#47;PRNTO&#47;PRES&#41; classification criteria&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">4</span></a></p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">IgAV is a small-vessel vasculitis&#44; involving the skin&#44; joints&#44; and kidney&#46; According to the EULAR&#47;PRINTO&#47;PRES classification criteria&#44; the diagnosis of IgAV is confirmed by the presence of purpura and one of the following clinical manifestations&#58; abdominal pain&#44; arthralgia&#44; renal insufficiency&#44; and leukocytoclastic vasculitis with predominant IgA deposits&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">4</span></a> Proteinuria&#44; hematuria&#44; or renal insufficiency are present in 70&#8211;80&#37; of adult patients with IgAV&#46;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a> There is no specific treatment for IgAV because it generally resolves spontaneously&#59; however&#44; renin&#8211;angiotensin system inhibitors and corticosteroid therapy are recommended to reduce proteinuria and maintain kidney function in moderate and severe cases&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">6</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">By contrast&#44; neurofibromatosis type 1&#44; an autosomal dominant disorder caused by germline mutations in the <span class="elsevierStyleItalic">NF1</span> tumour suppressor gene&#44; can manifest progressive multiple organ dysfunctions in the skin&#44; bones&#44; eyes&#44; and neuropsychiatric system&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a> Neurofibromas and caf&#233;-au-lait macules are the main skin features&#44; whereas&#44; palpable purpura is not&#46;<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">3</span></a> Regular assessment of neurofibromas &#40;owing to the increased risk of malignant peripheral nerve sheath tumours&#41;&#44; vitamin D supplementation &#40;owing to the increased risk of osteoporosis&#41;&#44; blood pressure monitoring &#40;owing to the increased risk of hypertension&#41; and visual assessment &#40;owing to the risk of optic pathway gliomas&#41;&#44; are the mainstay of clinical management&#46; Of note&#44; patients with neurofibromatosis type 1 have the increased risk of developing malignancy such as brain tumours&#44; adrenal cancer&#44; and early-onset breast cancer&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">Although the association between IgAV and neurofibromatosis type 1 is no clear&#44; this was the first reported case of IgAV in a patient with neurofibromatosis type 1&#46; The esophagogastroduodenoscopy showed no evidence of gastrointestinal bleeding or gastrointestinal stromal tumours&#46; After one month initiating enalapril&#44; the patient&#39;s proteinuria and hematuria resolved&#44; and the purpura subsided &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46; We recommended performing mammography for breast cancer screening because women with neurofibromatosis type 1 have the increased risk of breast cancer&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a></p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Funding</span><p id="par0030" class="elsevierStylePara elsevierViewall">This research did not receive any specific grant from funding agencies in the public&#44; commercial&#44; or not-for-profit sectors&#46;</p></span></span>"
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Letter to the Editor
Immunoglobulin A vasculitis in a patient with neurofibromatosis type 1
Vasculitis por inmunoglobulina A en un paciente con neurofibromatosis tipo 1
Yoshinosuke Shimamuraa,
Corresponding author
yshimamura.tkh@gmail.com

Corresponding author.
, Yayoi Ogawab, Toshiya Shinoharac
a Department of Nephrology, Teine Keijinkai Medical Center, Sapporo, Hokkaido, Japan
b Hokkaido Renal Pathology Center, Sapporo, Hokkaido, Japan
c Department of Pathology, Teine Keijinkai Medical Center, Sapporo, Hokkaido, Japan
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one of the main clinical features&#44; usually present as discrete nodules or pedunculated masses&#44; but cannot be presented as vasculitic skin purpura&#46;<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">3</span></a> Here&#44; we report a female patient with NF1 who demonstrated vasculitic skin rash&#46;</p><p id="par0010" class="elsevierStylePara elsevierViewall">A 56-year-old Japanese women with neurofibromatosis type 1 presented with new onset of microscopic hematuria&#44; abdominal pain&#44; and arthralgia&#46; Her past medical history included the left limb amputation due to a traffic accident and malignant peripheral nerve sheath tumours&#46; She had no previous history of renal disease and denied any use of tobacco or alcohol&#46; Upon physical examination&#44; her respiratory rate was 14 breaths per minute&#44; heart rate was 106 beats per minute&#44; blood pressure was 137&#47;85<span class="elsevierStyleHsp" style=""></span>mmHg&#44; and body temperature was 36&#46;7<span class="elsevierStyleHsp" style=""></span>&#176;C&#46; Notable examination findings included generalized neurofibromas&#44; palpable purpura on the right leg &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#44; and a slight tenderness at the epigastric area&#46; The musculoskeletal examination showed mild pain in the bilateral elbow joints&#46; Urinalysis showed &#62;100 erythrocytes per high-power field and 0&#46;54<span class="elsevierStyleHsp" style=""></span>g&#47;gCr of proteinuria&#46; The kidney function was normal &#40;blood urea nitrogen level&#44; 15&#46;6<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#59; serum creatinine level&#44; 0&#46;44<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#41;&#46; Renal biopsy revealed mild mesangial proliferation with granular Immunoglobulin A &#40;IgA&#41; deposition&#44; and skin biopsy showed leukocytoclastic vasculitis with IgA deposition&#46; The diagnosis of IgA vasculitis &#40;IgAV&#41; was made based on the European League Against Rheumatism&#44; the Paediatric Rheumatology International Trials Organizations&#44; and the Paediatric Rheumatology European Society &#40;EULAR&#47;PRNTO&#47;PRES&#41; classification criteria&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">4</span></a></p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">IgAV is a small-vessel vasculitis&#44; involving the skin&#44; joints&#44; and kidney&#46; According to the EULAR&#47;PRINTO&#47;PRES classification criteria&#44; the diagnosis of IgAV is confirmed by the presence of purpura and one of the following clinical manifestations&#58; abdominal pain&#44; arthralgia&#44; renal insufficiency&#44; and leukocytoclastic vasculitis with predominant IgA deposits&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">4</span></a> Proteinuria&#44; hematuria&#44; or renal insufficiency are present in 70&#8211;80&#37; of adult patients with IgAV&#46;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a> There is no specific treatment for IgAV because it generally resolves spontaneously&#59; however&#44; renin&#8211;angiotensin system inhibitors and corticosteroid therapy are recommended to reduce proteinuria and maintain kidney function in moderate and severe cases&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">6</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">By contrast&#44; neurofibromatosis type 1&#44; an autosomal dominant disorder caused by germline mutations in the <span class="elsevierStyleItalic">NF1</span> tumour suppressor gene&#44; can manifest progressive multiple organ dysfunctions in the skin&#44; bones&#44; eyes&#44; and neuropsychiatric system&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a> Neurofibromas and caf&#233;-au-lait macules are the main skin features&#44; whereas&#44; palpable purpura is not&#46;<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">3</span></a> Regular assessment of neurofibromas &#40;owing to the increased risk of malignant peripheral nerve sheath tumours&#41;&#44; vitamin D supplementation &#40;owing to the increased risk of osteoporosis&#41;&#44; blood pressure monitoring &#40;owing to the increased risk of hypertension&#41; and visual assessment &#40;owing to the risk of optic pathway gliomas&#41;&#44; are the mainstay of clinical management&#46; Of note&#44; patients with neurofibromatosis type 1 have the increased risk of developing malignancy such as brain tumours&#44; adrenal cancer&#44; and early-onset breast cancer&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">Although the association between IgAV and neurofibromatosis type 1 is no clear&#44; this was the first reported case of IgAV in a patient with neurofibromatosis type 1&#46; The esophagogastroduodenoscopy showed no evidence of gastrointestinal bleeding or gastrointestinal stromal tumours&#46; After one month initiating enalapril&#44; the patient&#39;s proteinuria and hematuria resolved&#44; and the purpura subsided &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46; We recommended performing mammography for breast cancer screening because women with neurofibromatosis type 1 have the increased risk of breast cancer&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a></p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Funding</span><p id="par0030" class="elsevierStylePara elsevierViewall">This research did not receive any specific grant from funding agencies in the public&#44; commercial&#44; or not-for-profit sectors&#46;</p></span></span>"
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ISSN: 20132514
Original language: English
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