Extensive Peculiar Cutaneous Form of Neurofibromatosis Type I as a New Mutation - a Case Report
Neurofibromatosis-1 (NF1) is one of the most common hereditary multisystemic disorders. The disease manifests a variety of characteristic features that include: hyperpigmentary abnormalities of the skin (café-au-lait macules, freckles in the axillae, and iris Lisch nodules) and growth of benign peri...
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Language: | English |
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Sciendo
2016-03-01
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Series: | Serbian Journal of Dermatology and Venereology |
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Online Access: | https://doi.org/10.1515/sjdv-2016-0002 |
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record_format |
Article |
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DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Balaban Jagoda Popović Dragana Pavlović Svetlana |
spellingShingle |
Balaban Jagoda Popović Dragana Pavlović Svetlana Extensive Peculiar Cutaneous Form of Neurofibromatosis Type I as a New Mutation - a Case Report Serbian Journal of Dermatology and Venereology neurofibromatosis 1 neurofibromin 1 café-au-lait spots iris diseases melanosis neurofibroma skin neoplasms case reports comorbidity |
author_facet |
Balaban Jagoda Popović Dragana Pavlović Svetlana |
author_sort |
Balaban Jagoda |
title |
Extensive Peculiar Cutaneous Form of Neurofibromatosis Type I as a New Mutation - a Case Report |
title_short |
Extensive Peculiar Cutaneous Form of Neurofibromatosis Type I as a New Mutation - a Case Report |
title_full |
Extensive Peculiar Cutaneous Form of Neurofibromatosis Type I as a New Mutation - a Case Report |
title_fullStr |
Extensive Peculiar Cutaneous Form of Neurofibromatosis Type I as a New Mutation - a Case Report |
title_full_unstemmed |
Extensive Peculiar Cutaneous Form of Neurofibromatosis Type I as a New Mutation - a Case Report |
title_sort |
extensive peculiar cutaneous form of neurofibromatosis type i as a new mutation - a case report |
publisher |
Sciendo |
series |
Serbian Journal of Dermatology and Venereology |
issn |
1821-0902 2406-0631 |
publishDate |
2016-03-01 |
description |
Neurofibromatosis-1 (NF1) is one of the most common hereditary multisystemic disorders. The disease manifests a variety of characteristic features that include: hyperpigmentary abnormalities of the skin (café-au-lait macules, freckles in the axillae, and iris Lisch nodules) and growth of benign peripheral nerve sheath tumors (neurofibromas) in the skin. Associated extracutaneous clinical features include: skeletal abnormalities, neurological, cardiovascular, endocrine and other malformations. NF1 is caused by mutation in the neurofibromatosis-1 gene, which codes for the protein neurofibromin. The inheritance of NF1 follows an autosomal dominant trait, although about 50% of patients present with new („de novo“) mutations, and represent the first member of their family. No difference in the severity of the disease can be found in patients with familial mutations versus those with new mutations. We present a 78-year-old female patient with an extreme cutaneous form of neurofibromatosis who reported no affected family member. Apart from skin problems, she had no major health issues in childhood and adolescence, but in recent decades she had frequent headaches, occasional abdominal pain, and vision and hearing impairment. About 10 to 14 days before admission, she developed a severe cough, shortness of breath, and chest and abdominal pain. On examination, the patient of short stature (hight: 152 cm, weight: 49 kg) presented with thousands of soft nodules dispersed over the whole body, except on extensor sides of thighs and lower legs; the nodules varied in color from skin-colored, livid erythematous, to brown-grey; the nodules on the abdomen were moist, partly bleeding from the base, and accompanied by an unpleasant odor. Her feet were also densely covered by dark purple lumps, with dystrophic changes of the toe nails that were thickened, frayed, and yellowish. The skeletal abnormalities included: short stature, severe osteoporosis and osteosclerosis of the head bone structure; degenerative arthropathc-spondylotic changes of the thoracolumbar spine segment with signs of diffuse skeletal hyperostosis; pronounced degenerative changes of the lumbar spine. CT scans of the head, chest and abdomen showed the following abnormalities: flattening of the paraventricular gyri and reduction of brain parenchyma with hypodensity of the white matter in terms of cortical atrophy; periventricular bilateral small post-ischemic microvascular brain lesions of varying chronicity; in the parenchyma of the upper left lung lobe the apical presence of small areas of pleural effusion with consequent subatelectic region; distended stomach and a small inner wall herniation; hypotrophic right kidney; atherosclerotic lesions of the abdominal aorta; low grade infrarenal kinking of the abdominal aorta. Pathohistological analysis of biopsy specimen taken from the nodule corresponded with cutaneous neurofibroma. Consultative examinations of various specialists pointed to the existence of the following comorbidities: obstructive respiratory syndrome and right lobe pneumonia that were treated by antibiotics, aminophylline and dexamethasone infusions; psycho-organic syndrome without focal neurological deficit; Lisch nodules in each eye, and senile cataract. Considering the age and medical presentation of the patient, no other treatment was considered. In conclusion, this is a sporadic case of cutaneous neurofibromatosis 1 in a 78-year-old female patient who presented with extremely severe cutaneous neurofibromas, making this case at least rather peculiar. |
topic |
neurofibromatosis 1 neurofibromin 1 café-au-lait spots iris diseases melanosis neurofibroma skin neoplasms case reports comorbidity |
url |
https://doi.org/10.1515/sjdv-2016-0002 |
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AT balabanjagoda extensivepeculiarcutaneousformofneurofibromatosistypeiasanewmutationacasereport AT popovicdragana extensivepeculiarcutaneousformofneurofibromatosistypeiasanewmutationacasereport AT pavlovicsvetlana extensivepeculiarcutaneousformofneurofibromatosistypeiasanewmutationacasereport |
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spelling |
doaj-d2ac3227b7d341a7b8bbde8b8ae1c8cb2021-09-05T14:00:37ZengSciendoSerbian Journal of Dermatology and Venereology1821-09022406-06312016-03-0181132710.1515/sjdv-2016-0002sjdv-2016-0002Extensive Peculiar Cutaneous Form of Neurofibromatosis Type I as a New Mutation - a Case ReportBalaban Jagoda0Popović Dragana1Pavlović Svetlana2Clinic of Skin and Venereal Diseases, University Clinical Centre of the Republic of Srpska, B&HClinic of Skin and Venereal Diseases, University Clinical Centre of the Republic of Srpska, B&HDepartment of Pathology, University Clinical Centre of the Republic of Srpska, B&HNeurofibromatosis-1 (NF1) is one of the most common hereditary multisystemic disorders. The disease manifests a variety of characteristic features that include: hyperpigmentary abnormalities of the skin (café-au-lait macules, freckles in the axillae, and iris Lisch nodules) and growth of benign peripheral nerve sheath tumors (neurofibromas) in the skin. Associated extracutaneous clinical features include: skeletal abnormalities, neurological, cardiovascular, endocrine and other malformations. NF1 is caused by mutation in the neurofibromatosis-1 gene, which codes for the protein neurofibromin. The inheritance of NF1 follows an autosomal dominant trait, although about 50% of patients present with new („de novo“) mutations, and represent the first member of their family. No difference in the severity of the disease can be found in patients with familial mutations versus those with new mutations. We present a 78-year-old female patient with an extreme cutaneous form of neurofibromatosis who reported no affected family member. Apart from skin problems, she had no major health issues in childhood and adolescence, but in recent decades she had frequent headaches, occasional abdominal pain, and vision and hearing impairment. About 10 to 14 days before admission, she developed a severe cough, shortness of breath, and chest and abdominal pain. On examination, the patient of short stature (hight: 152 cm, weight: 49 kg) presented with thousands of soft nodules dispersed over the whole body, except on extensor sides of thighs and lower legs; the nodules varied in color from skin-colored, livid erythematous, to brown-grey; the nodules on the abdomen were moist, partly bleeding from the base, and accompanied by an unpleasant odor. Her feet were also densely covered by dark purple lumps, with dystrophic changes of the toe nails that were thickened, frayed, and yellowish. The skeletal abnormalities included: short stature, severe osteoporosis and osteosclerosis of the head bone structure; degenerative arthropathc-spondylotic changes of the thoracolumbar spine segment with signs of diffuse skeletal hyperostosis; pronounced degenerative changes of the lumbar spine. CT scans of the head, chest and abdomen showed the following abnormalities: flattening of the paraventricular gyri and reduction of brain parenchyma with hypodensity of the white matter in terms of cortical atrophy; periventricular bilateral small post-ischemic microvascular brain lesions of varying chronicity; in the parenchyma of the upper left lung lobe the apical presence of small areas of pleural effusion with consequent subatelectic region; distended stomach and a small inner wall herniation; hypotrophic right kidney; atherosclerotic lesions of the abdominal aorta; low grade infrarenal kinking of the abdominal aorta. Pathohistological analysis of biopsy specimen taken from the nodule corresponded with cutaneous neurofibroma. Consultative examinations of various specialists pointed to the existence of the following comorbidities: obstructive respiratory syndrome and right lobe pneumonia that were treated by antibiotics, aminophylline and dexamethasone infusions; psycho-organic syndrome without focal neurological deficit; Lisch nodules in each eye, and senile cataract. Considering the age and medical presentation of the patient, no other treatment was considered. In conclusion, this is a sporadic case of cutaneous neurofibromatosis 1 in a 78-year-old female patient who presented with extremely severe cutaneous neurofibromas, making this case at least rather peculiar.https://doi.org/10.1515/sjdv-2016-0002neurofibromatosis 1neurofibromin 1café-au-lait spotsiris diseasesmelanosisneurofibromaskin neoplasmscase reportscomorbidity |