Fibrofolliculoma and Trichodiscoma

Requena, Luis; Sangüeza, Omar P.

doi:10.1007/978-3-319-45704-8_44

Cited by 1 publication

(7 citation statements)

References 55 publications

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“…The presence of at least five such lesions, with histological confirmation in at least one, has been proposed as a major criterion for BHD diagnosis [58]. Fibrofolliculomas and trichodiscomas are considered as hamartomas of the epithelium of the follicular mantle and perifollicular tissue [82]. Acrochordons, also known as skin tags, are the third most common skin lesion in BHD.…”

Section: Cutaneous Manifestationsmentioning

confidence: 99%

“…Both fibrofolliculomas and trichodiscomas, now considered as different evolutionary stages of the same lesion, present as whitish to skin-coloured dome-shaped papules, with a diameter of 2-3 mm and a smooth surface (figure 2) [84]. Predilection sites are the face (especially peri nasal), the retroauricular and nuchal region, and the upper chest [14,45,82]. Lesions are typically multiple with sometimes more than 100 lesions present, but their number is highly variable, even within the same family.…”

Section: Cutaneous Manifestationsmentioning

confidence: 99%

“…Suspicion of BHD needs histological confirmation if skin lesions are present, which is the case in most families. Only histology can discriminate between fibrofolliculomas, trichodiscomas, perifollicular fibromas [82,88,98] or atypical angiofibromas [84,93], as they are clinically indistinguishable. It is also important to differentiate them from similar lesions such as trichofolliculomas, basaliomas and others.…”

Section: Skin Abnormalitiesmentioning

confidence: 99%

“…Fibrofolliculomas are centred around a well-developed hair follicle, from which delicate epithelial cords of immature basaloid cells emanate in the loose connective tissue surrounding the central follicle. They anastomose among them and with the epithelium of the central hair follicle, resulting in a retiform pattern [82] (figure 5). Especially in the cystic fibrofolliculoma, the hair follicles appear cystically dilated and contain keratinous debris.…”

Section: Skin Abnormalitiesmentioning

confidence: 99%

“…Especially in the cystic fibrofolliculoma, the hair follicles appear cystically dilated and contain keratinous debris. In contrast, trichodiscomas are well-delimited lesions composed of a prominent stroma of thin collagen fibres, star-shaped fibrocytes and abundant mucin with, at the lateral margins, a collarette of large lobules of mature sebocytes which appear to embrace the lesion as a mitt or "hand of bananas" [82]. In some cases, a prominent vascular component is seen in the stroma of the lesion, which is then called a perivascular fibroma [82].…”

Section: Skin Abnormalitiesmentioning

confidence: 99%

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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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Section: Cutaneous Manifestationsmentioning

confidence: 99%