Koenen's tumor and facial angiofibromas in a case of Birt-Hogg-Dubé syndrome: A cutaneous contribution to growing evidence of a relationship with tuberous sclerosis complex

DiCicco, Beau; Johnson, Weilan; Allred, James; Soldano, Anthony C.; Ramsdell, William M.

doi:10.1016/j.jdcr.2016.03.014

Cited by 7 publications

(3 citation statements)

References 10 publications

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“…Although FAs seen in TSC are clinically indistinguishable from those present in Birt-Hogg-Dubé syndrome (BHD), facial papules in the latter typically consist of fibrofolliculoma and trichodiscoma as well [4]. Recently, reflectance confocal microscopy on FAs has also revealed regular epidermal honeycombed pattern with nodular structures with no palisading, thick collagen bundles around hair follicles, horizontal linear and vertical round vessels, along with small and angulated bright cells (corresponding to inflammatory cells) [3].…”

Section: Discussionmentioning

confidence: 99%

Dermoscopy of Facial Angiofibromas in Four Patients of Skin of Color with Tuberous Sclerosis Complex: A Case-Series

Jindal

Sethi

Chauhan

2021

Dermatol Pract Concept

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Section: Discussionmentioning

confidence: 99%

Dermoscopy of Facial Angiofibromas in Four Patients of Skin of Color with Tuberous Sclerosis Complex: A Case-Series

Jindal

Sethi

Chauhan

2021

Dermatol Pract Concept

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“…In contrast to classical fibrofolliculomas, this variant may present in children and resemble nevus comedonicus [86]. Perifollicular fibromas [68,[87][88][89], connective tissue nevus [90], multiple angiomatous nodules [91], (angio)lipomas [18], periungual fibromas [92], angiofibromas [68,92,93] and intraoral papules [94] have also been described. The latter three may lead to a wrong diagnosis of tuberous sclerosis complex (TSC) [93], another genetic autosomal dominant disorder characterised by facial angiofibromas, ungual fibromas, kidney angiomyolipomas, retinal hamartomas, cortical tubers, subependymal giant cell astrocytomas and other hamartomatous lesions.…”

Section: Cutaneous Manifestationsmentioning

confidence: 99%

Birt–Hogg–Dubé syndrome

et al. 2020

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Birt–Hogg–Dubé syndrome (BHD) is a rare inherited autosomal dominant disorder caused by germline mutations in the tumour suppressor gene FLCN, encoding the protein folliculin. Its clinical expression typically includes multiple pulmonary cysts, recurrent spontaneous pneumothoraces, cutaneous fibrofolliculomas and renal tumours of various histological types. BHD has no sex predilection and tends to manifest in the third or fourth decade of life. Multiple bilateral pulmonary cysts are found on chest computed tomography in >80% of patients and more than half experience one or more episodes of pneumothorax. A family history of pneumothorax is an important clue, which suggests the diagnosis of BHD. Unlike other cystic lung diseases such as lymphangioleiomyomatosis and pulmonary Langerhans cell histiocytosis, BHD does not lead to progressive loss of lung function and chronic respiratory insufficiency. Renal tumours affect about 30% of patients during their lifetime, and can be multiple and recurrent. The diagnosis of BHD is based on a combination of genetic, clinical and/or skin histopathological criteria. Management mainly consists of early pleurodesis in the case of pneumothorax, periodic renal imaging for tumour detection, and diagnostic work-up in search of BHD in relatives of the index patient.

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“…FFs 5 and multiple acrochordons 6 are classic for patients with BHDS but have been reported in patients with TSC. Likewise, periungual fibromas 7 and intraoral papules 8 are classic for TSC but have been observed in patients with BHDS. The histopathologic appearances of AFs and FFs are another point of potential overlap between BHDS and TSC.…”

Section: Discussionmentioning

confidence: 99%