Fibrofolliculomes, trichodiscomes et acrochordons: syndrome de Birt-Hogg-Dubé

Published on Jan 1, 1983in Annales De Dermatologie Et De Venereologie0.498
L. Balus4
Estimated H-index: 4
,
M. Fazio3
Estimated H-index: 3
+ 2 AuthorsMarmo W1
Estimated H-index: 1
Source
Abstract
Etude de 2 familles dont plusieurs membres presentent les manifestations cutanees du syndrome de Birt Hogg Duke: 1) cliniquement: eruption papuleuse localisee sur le visage, le cou et la partie superieure du tronc associee souvent a un nombre variable d'acrochordons; 2) histologiquement, association de fibrofolliculomes et de trichodiscomes. La coexistence dans les lesions des diverses neoplasies epitheliales et conjonctives folliculaires montre l'interaction biologique de ces 2 composantes de l'appareil pilaire
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#1Yun Tong (UCSD: University of California, San Diego)H-Index: 8
#2Jeremy A. Schneider (UCSD: University of California, San Diego)H-Index: 3
Last. Philip R. Cohen (UCSD: University of California, San Diego)H-Index: 61
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Birt–Hogg–Dube syndrome (BHD) is an autosomal dominant genodermatosis with malignant potential characterized by cutaneous and extracutaneous stigmata. Aberrations in the folliculin (FLCN) gene, which is located on chromosome 17, have been discovered in individuals with this condition. Over 150 unique mutations have been identified in BHD. The skin lesions associated with this condition include fibrofolliculomas, trichodiscomas, perifollicular fibromas, and acrochordons. Extracutaneous features o...
13 CitationsSource
#1Jonathan D. Ho (BU: Boston University)H-Index: 4
#2Jag Bhawan (BU: Boston University)H-Index: 57
Numerous benign and occasionally malignant tumors arise from the folliculosebaceous apparatus. Confusing terminology, rarity of malignant variants and overlapping histological features can lead to diagnostic uncertainty. This review highlights the clinical and histopathological features that help to classify these entities, as well as the various syndromes associated with certain members of this large family of tumors.
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#1Kael V. Mikesell (Penn State Milton S. Hershey Medical Center)H-Index: 2
#2Afif N. Kulaylat (Penn State Milton S. Hershey Medical Center)H-Index: 16
Last. Henry Crist (Penn State Milton S. Hershey Medical Center)H-Index: 8
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Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant disorder that presents with renal tumors, pulmonary cysts with spontaneous pneumothoraces, and skin hamartomas. We present a case of a 67-year-old female with multiple endocrinopathies and a history of BHD syndrome. In 2011, a thyroidectomy with a four-gland parathyroidectomy was performed for toxic multinodular goiter (TMNG) and parathyroid hyperplasia. On frozen section, a tumor was identified next to a hypercellular parathyroid. After bei...
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#1A. MaffeH-Index: 3
#2Benedetta Toschi (UniFI: University of Florence)H-Index: 2
Last. Maurizio Genuardi (UniFI: University of Florence)H-Index: 55
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Maffe A, Toschi B, Circo G, Giachino D, Giglio S, Rizzo A, Carloni A, Poletti V, Tomassetti S, Ginardi C, Ungari S, Genuardi M. Constitutional FLCN mutations in patients with suspected Birt–Hogg–Dube syndrome ascertained for non-cutaneous manifestations. Birt–Hogg–Dube syndrome (BHDS) is characterized by a clinical triad including cutaneous hamartomas originating from hair follicles, lung cysts/pneumothorax, and kidney tumors. Inactivating mutations of the tumor suppressor gene FLCN are identifi...
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#1Irene Fuertes (University of Barcelona)H-Index: 5
#2José Manuel Mascaró-Galy (University of Barcelona)H-Index: 8
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Birt-Hogg-Dube syndrome is an autosomal dominant genodermatosis characterized by the pres- ence of fibrofolliculomas, renal cancer, pulmonary cysts, and spontaneous pneumothorax. Recently, the folliculin gene responsible for this process has been identified, located on the short arm of chromosome 17. We present the case of a 49-year-old man with multiple whitish papules on the face, neck, and retroau- ricular area. Histology was compatible with fibrofolliculoma and genetic study showed a pathoge...
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#1Irene Fuertes (University of Barcelona)H-Index: 5
#2José Manuel Mascaró-Galy (University of Barcelona)H-Index: 8
Last. Juan Ferrando (University of Barcelona)H-Index: 15
view all 3 authors...
Birt-Hogg-Dube syndrome is an autosomal dominant genodermatosis characterized by the presence of fibrofolliculomas, renal cancer, pulmonary cysts, and spontaneous pneumothorax. Recently, the folliculin gene responsible for this process has been identified, located on the short arm of chromosome 17. We present the case of a 49-year-old man with multiple whitish papules on the face, neck, and retroauricular area. Histology was compatible with fibrofolliculoma and genetic study showed a pathogenic ...
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#1Michael Jude Welsch (U of C: University of Chicago)H-Index: 4
#2Aleksandar L. Krunic (U of C: University of Chicago)H-Index: 12
Last. Maria Medenica (U of C: University of Chicago)H-Index: 20
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Birt–Hogg–Dube Syndrome is an autosomal dominant condition characterized by a triad of fibrofolliculomas, trichodiscomas, and acrochordons. Since the first description in 1977, many conditions have been described in association with its clinical triad. Recent epidemiological studies have shown a significant association between the occurrence of lesions in the fibrofolliculoma/trichodiscoma category with renal neoplasms and pneumothoracies. The BHD protein folliculin had recently been identified....
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#1Arnon D. Cohen (BGU: Ben-Gurion University of the Negev)H-Index: 41
#2Marcelo H. Grunwald (BGU: Ben-Gurion University of the Negev)H-Index: 17
Last. Sima Halevy (BGU: Ben-Gurion University of the Negev)H-Index: 30
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Abstract Trichodiscomas are hamartomas of the hair disk and appear as multiple, firm, well-circumscribed papules measuring a few millimeters. In most cases, trichodiscomas are distributed on the face and neck. Trichodiscomas may occur as isolated tumors or in association with other follicular tumors. In some cases, multiple trichodiscomas appear in association with fibrofolliculomas or acrochordons. We herein describe multiple agminated trichodiscomas in the earlobe.
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#1Analisa Vincent (UPenn: University of Pennsylvania)H-Index: 2
#2Mary F. FarleyH-Index: 9
Last. William D. James (UPenn: University of Pennsylvania)H-Index: 55
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Abstract Birt-Hogg-Dube syndrome (BHDS) was originally described in 1977 as the grouping of 3 skin tumors—the fibrofolliculoma, trichodiscoma, and acrochordon—in family members with an autosomal dominant inheritance pattern. In recent years it has become clear that these 3 lesions likely represent only 1 of these tumors, the fibrofolliculoma. More important, evidence now supports a definite susceptibility to malignant renal tumors and pulmonary disease in patients with BHDS. Clinical recognition...
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The autosomal dominant Birt-Hogg-Dube syndrome is a cutaneo-intestinal condition that manifests on the skin in the form of multiple, skin-colored small papules that, histologically, prove to be mantleomas (fibrofolliculomas and trichodiscomas). These cutaneous lesions usually appear in the region of the head, neck, and upper part of the trunk. To date, only a single report in the literature describes the localized occurrence of this syndrome. We now describe a localized form of the Birt-Hogg-Dub...
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