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.
| Original language | English |
|---|---|
| Pages (from-to) | 1197-1202 |
| Number of pages | 6 |
| Journal | Journal of Cutaneous Pathology |
| Volume | 43 |
| Issue number | 12 |
| DOIs | |
| Publication status | Published - Dec 1 2016 |
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Keywords
- angiomatous nodule
- Birt–Hogg–Dubé syndrome
- vascular tumors
ASJC Scopus subject areas
- Pathology and Forensic Medicine
- Histology
- Dermatology
Cite this
Multiple angiomatous nodules : a novel skin tumor in Birt–Hogg–Dubé syndrome. / Nikolaidou, C.; Moscarella, E.; Longo, C.; Rosato, Simonetta; Cavazza, A.; Piana, S.
In: Journal of Cutaneous Pathology, Vol. 43, No. 12, 01.12.2016, p. 1197-1202.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Multiple angiomatous nodules
T2 - a novel skin tumor in Birt–Hogg–Dubé syndrome
AU - Nikolaidou, C.
AU - Moscarella, E.
AU - Longo, C.
AU - Rosato, Simonetta
AU - Cavazza, A.
AU - Piana, S.
PY - 2016/12/1
Y1 - 2016/12/1
N2 - 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.
AB - 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.
KW - angiomatous nodule
KW - Birt–Hogg–Dubé syndrome
KW - vascular tumors
UR - http://www.scopus.com/inward/record.url?scp=84990207358&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84990207358&partnerID=8YFLogxK
U2 - 10.1111/cup.12811
DO - 10.1111/cup.12811
M3 - Article
VL - 43
SP - 1197
EP - 1202
JO - Journal of Cutaneous Pathology
JF - Journal of Cutaneous Pathology
SN - 0303-6987
IS - 12
ER -