Vasculopathy in von recklinghausen's neurofibromatosis–a diagnostic quandary

Obermoser, Gerlinde; Zelger, Bettina; Millonig, Gunda; Sepp, Norbert; Vogel, Wolfgang; Zelger, Bernhard

doi:10.1016/j.jaad.2003.11.074

Cited by 15 publications

(16 citation statements)

References 12 publications

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“…Obemoster et al reported a case of neurofibromatosis type 1 with extensive ulcers caused by vasculopathy in the skin and gastrointestinal tract, and alerted us to neurofibromatosis vasculopathy for the precise diagnosis and appropriate therapy. 2 We describe here a Japanese woman with neurofibromatosis who developed therapy-resistant skin ulcers on her leg and inguinal region.…”

Section: Introductionmentioning

confidence: 99%

Therapy‐resistant skin ulcers on hypoplastic leg associated with neurofibromatosis type 1

Fujimura

Okuyama

Aiba

2008

The Journal of Dermatology

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We describe a case of therapy-resistant skin ulcers in sporadic neurofibromatosis type 1. A 40-year-old woman had suffered from neurofibromata on her trunk and extremities since 30 years prior. She suffered from hypoplasia of her right leg from a young age and had a 1-year history of therapy-resistant skin ulcers on the leg and inguinal region. Magnetic resonance angiography disclosed a narrowed femoral artery at the level of the upper thigh with poor root in the inner side corresponding to the ulcerated lesions. The vascular changes were thought to be the cause of the skin ulcers.

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Section: Introductionmentioning

confidence: 99%

Therapy‐resistant skin ulcers on hypoplastic leg associated with neurofibromatosis type 1

Fujimura

Okuyama

Aiba

2008

The Journal of Dermatology

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“…Cutaneous vasculopathy in NF is extremely rare. To our knowledge, it has been reported only twice . Neurofibromin, the deficient protein in NF, plays an important role in growth control and differentiation of cells.…”

Section: Discussionmentioning

confidence: 99%

“…The lack of complete healing might be explained by the inevitable repeated minor traumas experienced by the patient during daily life, an insufficient plasma level of imatinib (NF mice received a 10‐fold higher dose of imatinib than our patient) and the fact that we had to abandon treatment because of the major digestive side‐effects experienced by the patient. With regard to the only two other patients with skin vasculopathy published to date, all medications used – prednisolone, ciclosporin, mycofenolate mofetil and dapsone, and steroids, cyclophosphamide bolus therapy and infliximab, respectively – were unsuccessful and brought no improvement.…”

Section: Discussionmentioning

confidence: 99%

Use of imatinib in a patient with cutaneous vasculopathy in the context of von Recklinghausen disease/neurofibromatosis

2014

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von Recklinghausen disease/neurofibromatosis (NF) is caused by an autosomal dominant mutation in NF1, resulting in a deficiency of neurofibromin 1, a protein with a tumour suppressor function in the Ras-extracellular regulated kinase pathway. The disease comprises a variety of clinical manifestations, including vascular abnormalities. Large vessel abnormalities are well known, while small vessels of the skin are very rarely involved. The latter can cause livedo, necrosis and painful ulcers. For such ulcers, all invasive therapies (e.g. surgery and radiotherapy) are harmful and should be avoided. Herein, we describe a patient with NF and cutaneous vasculopathy treated with imatinib, a tyrosine kinase inhibitor.

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“…Several months later, a mammogram showed suspicious areas in both breasts that were determined by pathology to be ductal carcinoma in situ and a sclerosing radial lesion. Other cases of a large uterine leiomyoma [Kluger et al, 2009], large solitary hepatic cysts [Kissane, 1990; Levy et al, 2005], vasculopathy including splenic infarction [Obermoser et al, 2004], anemia, and breast cancer have been reported in individuals with NF1. Wei et al [2005] described a plexiform neurofibroma of the uterine cervix in a patient with NF1 and discussed five cases of uterine cervical neurofibromas that occurred between 1952 and 2005.…”

Section: To the Editormentioning

confidence: 99%

A new NF1 variant in a patient with atypical manifestations

Onitilo

Engel

2013

American J of Med Genetics Pt A

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Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder with an incidence of one in $3,000 [Tonsgard, 2006;Ferner et al., 2007;Friedman, 2009]. Heterozygous mutations of the NF1 gene are associated with cellular proliferation, especially in the peripheral nervous system. Multiple caf e-au-lait spots and neurofibromas are the characteristic manifestations of the condition, and neurofibromas can affect almost any organ in the body, though genitourinary involvement is uncommon [Wei et al., 2005]. In addition to neurofibromas and abnormal skin pigmentation, other manifestations distinctive to NF1 can be cognitive and learning disabilities, vascular disease, gastrointestinal stromal tumors, somatostatinomas, and breast cancer [Tonsgard, 2006;Ferner et al., 2007;Brems et al., 2009;Jett and Friedman, 2010]. Diagnosis of NF1 is made using clinical diagnostic criteria developed by the National Institute of Health (NIH) [Tonsgard, 2006;Ferner, 2010] and is confirmed by genetic testing.This 51-year-old patient had clinical manifestations of splenic infarction, a large benign hepatic cyst, and a large uterine fibroma, as well as manifestations of NF1 and an NF1 mutation that has not been previously described. She presented to the emergency room with persistent abdominal pain of a few days duration. She was otherwise generally healthy, with past medical history positive only for cervical dysplasia and hyperlipidemia. Computed tomography (CT) scans showed a large 15.0 cm Â 10.0 cm uterine fibroid, splenic infarction, and a large 10.0 cm Â 7.7 cm cystic area in the right hepatic lobe (Fig. 1). Due to her iron deficiency anemia, a consult with a hematologist was requested in anticipation of a hysterectomy and to provide recommendations for management of the splenic infarction. On physical examination, she was noted to have multiple skin nodules ranging in size from 2 mm to 2 cm and pigmented skin lesions, including freckles in the axillae and multiple cafe-au-lait spots, which were diagnostic for NF1. Her family history, though limited in information provided by the patient, was significant for ovarian cancer (mother), colon cancer (father), and breast cancer (paternal aunt), but was negative for skin lesions. Genetic sequencing was performed to confirm a diagnosis of NF1, and a new sequence variant was detected. A thrombophilic work-up showed a mildly elevated homocysteine level of 16 mmol/L (range: 0-13.3 mmol/L) and mildly positive anti-cardiolipin immunoglobulin M antibody (13.1 MPL units). Lupus anticoagulant and

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Vasculopathy in von recklinghausen's neurofibromatosis–a diagnostic quandary

Cited by 15 publications

References 12 publications

Therapy‐resistant skin ulcers on hypoplastic leg associated with neurofibromatosis type 1

Therapy‐resistant skin ulcers on hypoplastic leg associated with neurofibromatosis type 1

Use of imatinib in a patient with cutaneous vasculopathy in the context of von Recklinghausen disease/neurofibromatosis

A new NF1 variant in a patient with atypical manifestations

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