Birt–Hogg–Dubé Syndrome: A Review of Dermatological Manifestations and Other Symptoms

Tong, Yun; Schneider, Jeremy; Coda, Alvin B.; Hata, Tissa; Cohen, Philip R.

doi:10.1007/s40257-017-0307-8

Cited by 37 publications

(29 citation statements)

References 120 publications

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“…There is an analogous example in dermatopathology where the fibroepithelial hamartomas of Birt-Hogg-Dube syndrome, fibrofolliculomas and trichodiscomas, are now accepted to represent the same entity with a spectrum of morphological features [ 11 ]. Both are regarded to be hamartomas of the fibrous sheath of the hair follicle, the distinguishing feature between trichodiscoma and fibrofolliculoma is the presence of thin strands of follicular epithelium in the latter.…”

Section: Discussionmentioning

confidence: 99%

Folliculocystic and Collagen Hamartoma: A Subset of Fibrous Cephalic Plaque

Savell¹,

Norton²,

Heaphy³

2021

Cureus

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Tuberous sclerosis complex is known to cause a variety of cutaneous hamartomas, most commonly hypomelanotic macules, angiofibromas, shagreen patches, and fibrous cephalic plaques. In recent years, a new cutaneous hamartoma that bears physical and histological resemblance to fibrous cephalic plaque has been proposed called folliculocystic and collagen hamartoma. The primary difference between the two diagnoses is the histologic presence of infundibular cysts in the latter. However, some authors have called into question if the two diagnoses are truly distinct. In this case report, we present a patient with tuberous sclerosis complex and fibrous cephalic plaque with infundibular cysts and propose that the presence of cysts should be incorporated into the possible histologic features of fibrous cephalic plaque.

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Section: Discussionmentioning

confidence: 99%

Folliculocystic and Collagen Hamartoma: A Subset of Fibrous Cephalic Plaque

Savell¹,

Norton²,

Heaphy³

2021

Cureus

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“…13,14 The skin lesions are typically the earliest observed manifestation of the syndrome, and the most penetrant aspect of the phenotype with lesions appearing in the third decade of life, and in up to 90% of affected individuals. 12,15,16 This does not appear to be true for Asian cohorts though, with population studies finding skin lesions in only 49% of a cohort of 157 Japanese FLCN mutation carriers, no skin lesions in a cohort of 23 Chinese FLCN mutation carriers and only three (25%) individuals with skin findings in a group of 12 Korean BHD patients. [17][18][19] RCC is identified in up to one-third of FLCN mutation carriers in their life times with a mean age of presentation in the late fifth to early sixth decade of life (►Fig.…”

Section: Clinical Featuresmentioning

confidence: 96%

“…The cutaneous, perifollicular benign lesions associated with BHD most commonly present as 2 to 4 mm, flesh or pale colored, dome-shaped papules that appear on the mid-face, neck, and trunk of patients. 2,12 They may number from two to more than 100 as characterized in the case of a 23-year-old French woman more than 90 years ago. This may in fact be the first documentation of a patient with BHD, although there is no further information on whether Ms. Charlotte M. went on to develop renal or pulmonary manifestation or had a FLCN mutation identified.…”

Section: Clinical Featuresmentioning

confidence: 99%

New Developments in the Pathogenesis of Pulmonary Cysts in Birt–Hogg–Dubé Syndrome

Kennedy

Khabibullin

Boku

et al. 2020

Semin Respir Crit Care Med

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Birt–Hogg–Dubé (BHD) syndrome is an autosomal dominant disorder caused by germline loss-of-function mutations in Folliculin gene (FLCN). BHD is characterized by lower lobe-predominant pulmonary cysts with risk of pneumothorax, benign skin tumors (fibrofolliculomas), and renal cell carcinoma, often of an unusual chromophobe/oncocytic hybrid histology. The FLCN protein functions in multiple signaling and metabolic pathways including positive regulation of mechanistic target of rapamycin complex 1 (mTORC1) activity via FLCN's GTPase (GAP) activity for Rag C, positive regulation of Wnt signaling (in mesenchymal cells), and negative regulation of TFE3 nuclear localization. Therefore, FLCN-deficient cells are predicted to have reduced mTORC1 and Wnt activity and enhanced TFE3 activity. Folliculin also has functions in autophagy, mitochondrial biogenesis, cell-cell adhesion, 5′ AMP activated protein kinase activity, and other pathways. The specific contributions of these pathways to the lung manifestations of BHD are largely unknown. This review is focused on the pulmonary manifestations of BHD, highlighting selected recent advances in elucidating the cellular functions of FLCN and current hypotheses related to the pathogenesis of cystic lung disease in BHD, including the “stretch hypothesis.” We also discuss important knowledge gaps in the field, including the genetic, cellular and physical mechanisms of cyst pathogenesis, and the timing of cyst initiation, which may occur during lung development.

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“…Cutaneous hamartomas, including fibrofolliculomas, trichodiscomas, and acrochordons, are common and generally benign. Fibrofolliculomas, which are the most common skin finding, typically appear on the face, neck, and upper trunk and develop in adulthood 140 …”

Section: Pneumothoraxmentioning

confidence: 99%

Recognizing genetic disease: A key aspect of pediatric pulmonary care

Yonker

Hawley

Moschovis

et al. 2020

Pediatric Pulmonology

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Advancement in technology has improved recognition of genetic etiologies of disease, which has impacted diagnosis and management of rare disease patients in the pediatric pulmonary clinic. This review provides an overview of genetic conditions that are likely to present with pulmonary features and require extensive care by the pediatric pulmonologist. Increased familiarity with these conditions allows for improved care of these patients by reducing time to diagnosis, tailoring management, and prompting further investigation into these disorders. K E Y W O R D S bronchiectasis and primary ciliary dyskinesia, cystic fibrosis (CF), genetics/Genome-Wide Association Studies (GWAS), immunology and immunodeficiency, surfactant biology and pathophysiology • ABCA3, SFTPB, and SFTPC-related surfactant dysfunction • Brain-lung-thyroid syndrome • Pulmonary alveolar proteinosis | Clinical overviewAcute respiratory distress during the neonatal period, as characterized by hypoxemia and retractions, is expected in preterm infants due to immature lung development. However, if these signs and symptoms present in a full-term infant, or to a more severe degree than would be explained by prematurity alone, surfactant deficiency or dysfunction should be considered. Surfactant dysfunction disorders result from abnormal production or transport of the phospholipids and proteins that comprise the pulmonary surfactant complex. Surfactant is produced by alveolar type II epithelial cells

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Birt–Hogg–Dubé Syndrome: A Review of Dermatological Manifestations and Other Symptoms

Cited by 37 publications

References 120 publications

Folliculocystic and Collagen Hamartoma: A Subset of Fibrous Cephalic Plaque

Folliculocystic and Collagen Hamartoma: A Subset of Fibrous Cephalic Plaque

New Developments in the Pathogenesis of Pulmonary Cysts in Birt–Hogg–Dubé Syndrome

Recognizing genetic disease: A key aspect of pediatric pulmonary care

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