A case of portal hypertension by presumed as plexiform neurofibroma at the hepatic hilum

Lee, Kyung Han; Yoo, Sun Hong; Noh, Gi Tark; Heo, Won Suk; Ko, Byung Seong; Chio, Jung Ah; Cho, Hyo Jin; Choi, Jin Young; Kim, Hee Jun; Sohn, Won; Park, Sang Jong; Park, Young Min

doi:10.3350/cmh.2015.0021

Cited by 8 publications

(22 citation statements)

References 15 publications

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“…They can be present anywhere in the body. Intra-abdominal plexiform neurofibromas are rare with less than 25 cases reported in literature [ 15 ]. They are most frequently located in the abdomino-pelvic wall or retroperitoneum [ 7 , 15 ].…”

Section: Discussionmentioning

confidence: 99%

“…Intra-abdominal plexiform neurofibromas are rare with less than 25 cases reported in literature [ 15 ]. They are most frequently located in the abdomino-pelvic wall or retroperitoneum [ 7 , 15 ]. Plexiform neurofibroma involving the liver or periportal region comprise 2.3% of all abdominal plexiform neurofibromas [ 15 – 17 ].…”

Section: Discussionmentioning

confidence: 99%

“…They are most frequently located in the abdomino-pelvic wall or retroperitoneum [ 7 , 15 ]. Plexiform neurofibroma involving the liver or periportal region comprise 2.3% of all abdominal plexiform neurofibromas [ 15 – 17 ]. Most of these tumors are incidentally detected during abdominal imaging or surgery as seen in our case [ 15 ].…”

Section: Discussionmentioning

confidence: 99%

“…Plexiform neurofibroma involving the liver or periportal region comprise 2.3% of all abdominal plexiform neurofibromas [ 15 – 17 ]. Most of these tumors are incidentally detected during abdominal imaging or surgery as seen in our case [ 15 ]. In the present case, they were misinterpreted as metastatic lymph nodes.…”

Section: Discussionmentioning

confidence: 99%

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Rare triad of periampullary carcinoid, duodenal gastrointestinal stromal tumor and plexiform neurofibroma at hepatic hilum in neurofibromatosis type 1: a case report

et al. 2017

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BackgroundNeurofibromatosis type 1 is a relatively common inherited disorder. Patients with neurofibromatosis type 1 are at high risk of developing neurogenic, neuroendocrine and mesenchymal intra-abdominal tumors. Although coexistence of multiple tumors of different types is frequent in neurofibromatosis type 1, simultaneous occurrence of abdominal tumors of three types in very rare.Case presentationA 66-year-old lady with neurofibromatosis type 1 presented with painless progressive jaundice for six months. Laboratory investigations revealed iron deficiency anemia and conjugated hyperbilirubinemia. Tumor markers were normal. Abdominal computed tomography showed a 3 × 2 cm heterogenous mass in the periampullary region with mild dilation of the common bile duct and another 2 × 1.7 cm mass in the fourth portion of the duodenum. Endoscopic biopsy confirmed the diagnosis of periampullary carcinoid. At surgery, multiple small nodules were detected at the hepatic hilum. Frozen section suggested them to be neurofibromas. Patient underwent pancreatoduodenectomy and had uneventful recovery with no recurrence at two months. Microscopic examination of the resected specimen confirmed presence of three tumors: periampullary well differentiated neuroendocrine tumor, gastrointestinal stromal tumor of the fourth part of duodenum and plexiform neurofibroma at the hepatic hilum.ConclusionPatients of neurofibromatosis type 1 with abdominal symptoms should be treated with high index of clinical suspicion and thoroughly evaluated to rule out multiple tumors.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Rare triad of periampullary carcinoid, duodenal gastrointestinal stromal tumor and plexiform neurofibroma at hepatic hilum in neurofibromatosis type 1: a case report

et al. 2017

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“…[34][35][36] Moreover, T2SM may involve the brain, 37 eye and orbita, [38][39][40] bones and joints, [41][42][43][44] parotis, 45 thyroid, 46 larynx, 47 trachea, 48 lung, 49 heart, 41,49,50 oesophagus, 51 upper gastro-intestinal tract ( Fig. 3), 49,52,53 rectum, 54,55 liver, 56,57 gall bladder, 58 pancreas, 56 retroperitoneum 59 and bladder. 60…”

Section: Introductionmentioning

confidence: 99%

The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine

Happle

2018

Acad Dermatol Venereol

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In autosomal dominant skin disorders, the well-known type 1 segmental mosaicism reflects heterozygosity for a postzygotic new mutation. By contrast, type 2 segmental mosaicism originates in a heterozygous embryo from an early postzygotic mutational event giving rise to loss of the corresponding wild-type allele, which results in a pronounced segmental involvement being superimposed on the ordinary, non-segmental phenotype. Today, this concept has been proven by molecular analysis in many cutaneous traits. The purpose of this review was to seek publications of cases suggesting an extracutaneous manifestation of type 2 segmental mosaicism. Case reports documenting a pronounced extracutaneous segmental involvement were collected from the literature available in PubMed and from personal communications to the author. Pertinent cases are compared to the description of cutaneous segmental mosaicism of type 1 or type 2 as reported in a given trait. In total, reports suggesting extracutaneous type 2 segmental mosaicism were found in 14 different autosomal dominant skin disorders. In this way, clinical evidence is accumulated that extracutaneous type 2 segmental mosaicism does likewise occur in many autosomal dominant skin disorders. So far, however, molecular proof of this particular form of mosaicism is lacking. The present review may stimulate readers to inform colleagues of other specialties on this new concept, in order to initiate further research in this particular field of knowledge that has important implications for diagnosis, treatment and genetic counselling.

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Portal cavernoma in type 1 neurofibromatosis: A fortuitous or causal association?

Ashworth

Abreu

Guerra

et al. 2023

American J of Med Genetics Pt A

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Neurofibromatosis type 1 (NF‐1) is a multisystem genetic disorder affecting the NF1 tumor suppressor gene. Patients typically develop superficial (cutaneous) and internal (plexiform) neurofibromas. The latter may rarely involve the liver locating in the hilum and encasing the portal vessels, leading to portal hypertension. Vascular abnormalities (NF‐I vasculopathy) are a well‐recognized manifestation of NF‐1. Although the pathogenesis is not well‐known, NF‐1 vasculopathy involves arteries of both peripheral and cerebral territories, with venous thrombosis being exceptionally reported. Portal venous thrombosis (PVT) is the leading cause of portal hypertension in childhood and has been associated with several risk factors. Nevertheless, predisposing conditions remain unknown in more than 50% of the cases. The treatment options are limited, and its management is nonconsensual in the pediatric age. We report the case of a 9‐year‐old boy with clinically and genetically confirmed NF‐1, diagnosed with portal venous cavernoma after an episode of gastrointestinal bleeding. There were no identifiable risk factors for PVT and intrahepatic peri‐hilar plexiform neurofibroma was excluded by MRI imaging. To the best of our knowledge, this is the first report of PVT in NF‐1. We speculate that NF‐1 vasculopathy may have been a pathogenic factor, or instead, it was a fortuitous association.

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A case of portal hypertension by presumed as plexiform neurofibroma at the hepatic hilum

Cited by 8 publications

References 15 publications

Rare triad of periampullary carcinoid, duodenal gastrointestinal stromal tumor and plexiform neurofibroma at hepatic hilum in neurofibromatosis type 1: a case report

Rare triad of periampullary carcinoid, duodenal gastrointestinal stromal tumor and plexiform neurofibroma at hepatic hilum in neurofibromatosis type 1: a case report

The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine

Portal cavernoma in type 1 neurofibromatosis: A fortuitous or causal association?

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