Comment on Balsamo et al.: "Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature".
Angiomyolipoma
Birt–Hogg–Dubé syndrome
FLCN gene
Gastrointestinal hyperplastic polyposis
Journal
BMC medical genomics
ISSN: 1755-8794
Titre abrégé: BMC Med Genomics
Pays: England
ID NLM: 101319628
Informations de publication
Date de publication:
15 04 2022
15 04 2022
Historique:
received:
23
11
2021
accepted:
06
04
2022
entrez:
16
4
2022
pubmed:
17
4
2022
medline:
20
4
2022
Statut:
epublish
Résumé
In this comment, we highlight the diagnosis of Birt-Hogg-Dubé (BHD) in a 60-year-old man was made from identification and removal of normochromic papular cutaneous lesions whose histological examination indicated trichodyscomas and which are considered equivalent to fibrofolliculomas, presence of bilateral renal mass suggestive of angiomyolipomas by imaging exams. A benign/likely benign variant of FLCN in the intron 13 was also detected. Still, his previous pathological history presented other relevant data such as the prior removal of vocal cord angioma, total thyroidectomy, and left parotidectomy due to a cystic lesion whose histopathological examination revealed the presence of oncocytoma and lipomatosis, in addition to basal cell cutaneous carcinoma. Simultaneous gastrointestinal hyperplastic polyposis was found in this patient. The case we reported does not have the genotypic and phenotypic expressions most present in BHDS. These facts make it important for readers to know the clinical and genetic presentation facets of this unusual syndrome.
Identifiants
pubmed: 35428236
doi: 10.1186/s12920-022-01233-9
pii: 10.1186/s12920-022-01233-9
pmc: PMC9013088
doi:
Substances chimiques
Proto-Oncogene Proteins
0
Tumor Suppressor Proteins
0
Types de publication
Case Reports
Letter
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
85Informations de copyright
© 2022. The Author(s).
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