Birt–Hogg–Dubé syndrome (BHDS), first described in 1977, is a rare autosomal dominant disorder, linked to germline mutations in the FLCN (folliculin) gene. Patients may present with different skin tumors, pulmonary cysts with recurrent spontaneous pneumothorax, and renal cancers, but it has also been estimated that about 25% of carriers older than 20 years do not show skin involvement. So far, besides the triad of skin lesions of the original description (fibrofolliculomas, trichodischomas and acrochordons), a wide range of neoplastic and non-neoplastic skin conditions have been reported, i.e. melanomas, trichoblastoma, neural- and connective tissue tumors, lipomas, angiolipomas and focal cutaneous mucinosis. We describe a patient with BHDS developing multiple skin angiomatous lesions with prominent signet-ring features, an association never reported so far. As renal carcinomas represent the most threatening complication in BHDS and the identification of the patients with BHDS is mainly based on the clinical and histopathologic identification of the diagnostic skin lesions, the role of the dermatologist can be crucial in the prevention and early detection of a potentially aggressive renal cancer.

Multiple angiomatous nodules: a novel skin tumor in Birt–Hogg–Dubé syndrome / Nikolaidou, C.; Moscarella, Elvira; Longo, Caterina; Rosato, S.; Cavazza, A.; Piana, S.. - In: JOURNAL OF CUTANEOUS PATHOLOGY. - ISSN 0303-6987. - 43:12(2016), pp. 1197-1202. [10.1111/cup.12811]

Multiple angiomatous nodules: a novel skin tumor in Birt–Hogg–Dubé syndrome

MOSCARELLA, ELVIRA;LONGO, Caterina;
2016

Abstract

Birt–Hogg–Dubé syndrome (BHDS), first described in 1977, is a rare autosomal dominant disorder, linked to germline mutations in the FLCN (folliculin) gene. Patients may present with different skin tumors, pulmonary cysts with recurrent spontaneous pneumothorax, and renal cancers, but it has also been estimated that about 25% of carriers older than 20 years do not show skin involvement. So far, besides the triad of skin lesions of the original description (fibrofolliculomas, trichodischomas and acrochordons), a wide range of neoplastic and non-neoplastic skin conditions have been reported, i.e. melanomas, trichoblastoma, neural- and connective tissue tumors, lipomas, angiolipomas and focal cutaneous mucinosis. We describe a patient with BHDS developing multiple skin angiomatous lesions with prominent signet-ring features, an association never reported so far. As renal carcinomas represent the most threatening complication in BHDS and the identification of the patients with BHDS is mainly based on the clinical and histopathologic identification of the diagnostic skin lesions, the role of the dermatologist can be crucial in the prevention and early detection of a potentially aggressive renal cancer.
2016
3-ott-2016
43
12
1197
1202
Multiple angiomatous nodules: a novel skin tumor in Birt–Hogg–Dubé syndrome / Nikolaidou, C.; Moscarella, Elvira; Longo, Caterina; Rosato, S.; Cavazza, A.; Piana, S.. - In: JOURNAL OF CUTANEOUS PATHOLOGY. - ISSN 0303-6987. - 43:12(2016), pp. 1197-1202. [10.1111/cup.12811]
Nikolaidou, C.; Moscarella, Elvira; Longo, Caterina; Rosato, S.; Cavazza, A.; Piana, S.
File in questo prodotto:
File Dimensione Formato  
cup.12811.pdf

Accesso riservato

Tipologia: Versione pubblicata dall'editore
Dimensione 1.42 MB
Formato Adobe PDF
1.42 MB Adobe PDF   Visualizza/Apri   Richiedi una copia
Pubblicazioni consigliate

Licenza Creative Commons
I metadati presenti in IRIS UNIMORE sono rilasciati con licenza Creative Commons CC0 1.0 Universal, mentre i file delle pubblicazioni sono rilasciati con licenza Attribuzione 4.0 Internazionale (CC BY 4.0), salvo diversa indicazione.
In caso di violazione di copyright, contattare Supporto Iris

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/1140948
Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus 4
  • ???jsp.display-item.citation.isi??? 3
social impact