The Experts below are selected from a list of 96 Experts worldwide ranked by ideXlab platform
Elizabeth Heller Page - One of the best experts on this subject based on the ideXlab platform.
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parotid oncocytoma in the birt hogg dube syndrome
Journal of The American Academy of Dermatology, 2000Co-Authors: Theodore H Kwan, Elizabeth Heller PageAbstract:Abstract Birt-Hogg-Dube syndrome consists of fibrofolliculomas, Trichodiscomas, and acrochordons and has been associated with several noncutaneous tumors. We report the first case of Birt-Hogg-Dube syndrome in association with a parotid oncocytoma, a rare salivary gland tumor. (J Am Acad Dermatol 2000;43:1120-2.)
Theodore H Kwan - One of the best experts on this subject based on the ideXlab platform.
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parotid oncocytoma in the birt hogg dube syndrome
Journal of The American Academy of Dermatology, 2000Co-Authors: Theodore H Kwan, Elizabeth Heller PageAbstract:Abstract Birt-Hogg-Dube syndrome consists of fibrofolliculomas, Trichodiscomas, and acrochordons and has been associated with several noncutaneous tumors. We report the first case of Birt-Hogg-Dube syndrome in association with a parotid oncocytoma, a rare salivary gland tumor. (J Am Acad Dermatol 2000;43:1120-2.)
Jaques Waisberg - One of the best experts on this subject based on the ideXlab platform.
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birt hogg dube syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract case report and review of the literature
BMC Medical Genetics, 2020Co-Authors: Flavia Balsamo, Pedro Augusto Soffner Cardoso, Sergio Aparecido Do Amaral, Therese Rachell Theodoro, Flavia De Sousa Gehrke, Maria Aparecida Da Silva Pinhal, Bianca Bianco, Jaques WaisbergAbstract:Birt-Hogg-Dube syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by benign growth of the hair follicles, the presence of pulmonary cysts, spontaneous pneumothorax, and bilateral renal tumors that are usually hybrid oncocytic or multifocal chromophobe renal cell carcinoma. The diagnosis is confirmed by the presence of a pathogenic variant in the tumor suppressor folliculin (FLCN) gene mapped at 17p11.2. Although the dermatological lesions typical of BHDS are benign and only cause aesthetic concerns, and the pulmonary manifestations are controllable, the greater tendency of patients with this syndrome to present benign or malignant renal tumors, often bilateral and multifocal, makes the diagnosis of this syndrome important for the prognosis of the patients. The objective was to report the case of a patient with BHDS, without pulmonary manifestations and with hyperplastic polyposis of the gastrointestinal tract, and to perform a literature review. A 60-year-old man complained of abdominal pain and diarrhoea for 2 months. Physical examination was normal except for the presence of normochromic papules in the frontal region of the face associated with hyperkeratotic and hyperchromic papules in the dorsal region. The excisional biopsies of the skin lesions indicated Trichodiscomas. Esophagogastroduodenoscopy, enteroscopy, and colonoscopy showed the presence of hyperplastic polyps in the stomach, duodenum, jejunum, colon, and rectum. Computed tomography (CT) and magnetic resonance imaging (MRI) of the abdomen revealed multiple expansive solid lesions in both kidneys, with necrotic and calcified areas. Renal magnetic resonance angiography also showed a solid lesion in the right kidney measuring 5 cm in diameter and another solid lesion in the left kidney measuring 8 cm in diameter, both suggestive of renal angiomyolipoma. CT scans of the skull, chest, and temporal bones were normal. The genetic study revealed the presence of a variant of FLCN in the intron 13. To the best of our knowledge, this is the first reported case of BHDS with the simultaneous finding of gastrointestinal hyperplastic polyposis, which may represent a possible phenotypic expression of this syndrome that has not yet been described.
Yutaka Narisawa - One of the best experts on this subject based on the ideXlab platform.
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Journal of Cutaneous Pathology
2015Co-Authors: John Wiley, Sons Printed In Singapore, Noriyuki Misago Tetsunori, Yutaka NarisawaAbstract:fibrous papule (perifollicular fibroma/ angiofibroma): a revaluation of the histopathological and immunohistochemical features Background: The multiple facial lesions of fibrofolliculoma (FF)/ Trichodiscoma (TD) and those of fibrous papule (FP; perifollicular fibroma/angiofibroma, AF) are characteristic of Birt-Hogg-Dubé (BHD) syndrome and tuberous sclerosis, respectively. However, there was a recently reported case of BHD syndrome with multiple facial FP lesions and a case of tuberous sclerosis, in which one FF lesion was included among the multiple facial FPs. Methods: The histopathological and immunohistochemical features of FF/TD and FP lesions were revaluated to study the relationship between the two. This investigation evaluated 20 FF/TD lesions including two cases of BHD syndrome and 35 FP lesions including three cases of tuberous sclerosis. Results: There are common histopathological features in the two lesions, such as the follicular and perifollicular elements, an angiofibromatous element and stellate fibrocytes. The similar immunohistochemical features between the two lesions included the expression patterns of CD34, factor XIIIa, nestin and c-kit in the stromal cells as well as abnormal CK15 expression in the hair follicles. Conclusions: Both FF/TD and FP are hamartomas composed of perifollicular or interfollicular connective tissue and a hair follicular epithelial component, which may be caused by an abnormal functioning of the hair follicle bulge cells. Misago N, Kimura T, Narisawa Y. Fibrofolliculoma/Trichodiscoma and fibrous papule (perifollicular fibroma/angiofibroma): a revaluation of the histopathological and immunohistochemical features
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fibrofolliculoma Trichodiscoma and fibrous papule perifollicular fibroma angiofibroma a revaluation of the histopathological and immunohistochemical features
Journal of Cutaneous Pathology, 2009Co-Authors: Noriyuki Misago, Tetsunori Kimura, Yutaka NarisawaAbstract:Background: The multiple facial lesions of fibrofolliculoma (FF)/Trichodiscoma (TD) and those of fibrous papule (FP; perifollicular fibroma/angiofibroma, AF) are characteristic of Birt-Hogg-Dube (BHD) syndrome and tuberous sclerosis, respectively. However, there was a recently reported case of BHD syndrome with multiple facial FP lesions and a case of tuberous sclerosis, in which one FF lesion was included among the multiple facial FPs. Methods: The histopathological and immunohistochemical features of FF/TD and FP lesions were revaluated to study the relationship between the two. This investigation evaluated 20 FF/TD lesions including two cases of BHD syndrome and 35 FP lesions including three cases of tuberous sclerosis. Results: There are common histopathological features in the two lesions, such as the follicular and perifollicular elements, an angiofibromatous element and stellate fibrocytes. The similar immunohistochemical features between the two lesions included the expression patterns of CD34, factor XIIIa, nestin and c-kit in the stromal cells as well as abnormal CK15 expression in the hair follicles. Conclusions: Both FF/TD and FP are hamartomas composed of perifollicular or interfollicular connective tissue and a hair follicular epithelial component, which may be caused by an abnormal functioning of the hair follicle bulge cells.
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fibrofolliculoma Trichodiscoma and fibrous papule perifollicular fibroma angiofibroma a revaluation of the histopathological and immunohistochemical features
Journal of Cutaneous Pathology, 2009Co-Authors: Noriyuki Misago, Tetsunori Kimura, Yutaka NarisawaAbstract:BACKGROUND: The multiple facial lesions of fibrofolliculoma (FF)/Trichodiscoma (TD) and those of fibrous papule (FP; perifollicular fibroma/angiofibroma, AF) are characteristic of Birt-Hogg-Dube (BHD) syndrome and tuberous sclerosis, respectively. However, there was a recently reported case of BHD syndrome with multiple facial FP lesions and a case of tuberous sclerosis, in which one FF lesion was included among the multiple facial FPs. METHODS: The histopathological and immunohistochemical features of FF/TD and FP lesions were revaluated to study the relationship between the two. This investigation evaluated 20 FF/TD lesions including two cases of BHD syndrome and 35 FP lesions including three cases of tuberous sclerosis. RESULTS: There are common histopathological features in the two lesions, such as the follicular and perifollicular elements, an angiofibromatous element and stellate fibrocytes. The similar immunohistochemical features between the two lesions included the expression patterns of CD34, factor XIIIa, nestin and c-kit in the stromal cells as well as abnormal CK15 expression in the hair follicles. CONCLUSIONS: Both FF/TD and FP are hamartomas composed of perifollicular or interfollicular connective tissue and a hair follicular epithelial component, which may be caused by an abnormal functioning of the hair follicle bulge cells.
Hong Jiang - One of the best experts on this subject based on the ideXlab platform.
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Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene
BMC Medical Genetics, 2018Co-Authors: Xiaocan Hou, Kun Xia, Rong Qiu, Yun Jin-peng, Beisha Tang, Wei Zhuang, Yuan Zhou, Hong JiangAbstract:BackgroundBirt-Hogg-Dubé syndrome is an autosomal dominant hereditary condition caused by mutations in the folliculin-encoding gene FLCN (NM_144997). It is associated with skin lesions such as fibrofolliculoma, acrochordon and Trichodiscoma; pulmonary lesions including spontaneous pneumothorax and pulmonary cysts and renal cancer.MethodsGenomic DNA was extracted from peripheral venous blood samples of the propositi and their family members. Genetic analysis was performed by whole exome sequencing and Sanger sequencing aiming at corresponding exons in FLCN gene to explore the genetic mutations of these two families.ResultsIn this study, we performed genetic analysis by whole exome sequencing and Sanger sequencing aiming at corresponding exons in FLCN gene to explore the genetic mutations in two Chinese families. Patients from family 1 mostly suffered from pneumothorax and pulmonary cysts, several of whom also mentioned skin lesions or kidney lesions. While in family 2, only thoracic lesions were found in the patients, without any other clinical manifestations. Two FLCN mutations have been identified: One is an insertion mutation (c.1579_1580insA/p.R527Xfs on exon 14) previously reported in three Asian families (one mainland family and two Taiwanese families); while the other is a firstly reviewed mutation in Asian population (c.649C > T / p.Gln217X on exon 7) that ever been detected in a French family.ConclusionsOverall, The detection of these two mutations expands the spectrum of FLCN mutations and will provide insight into genetic diagnosis and counseling of Birt-Hogg-Dubé syndrome.
