Diagnostic implications of Gardner Syndrome, case report of a familial adenomatous polyposis (FAP) variant, for eye care professionals.
Congenital hypertrophy of retinal epithelium (CHRPE)
Familial adenomatous polyposis (FAP)
Gardner syndrome (GS)
Journal
International journal of surgery case reports
ISSN: 2210-2612
Titre abrégé: Int J Surg Case Rep
Pays: Netherlands
ID NLM: 101529872
Informations de publication
Date de publication:
Mar 2024
Mar 2024
Historique:
received:
04
12
2023
revised:
06
02
2024
accepted:
08
02
2024
medline:
14
2
2024
pubmed:
14
2
2024
entrez:
13
2
2024
Statut:
ppublish
Résumé
Gardner Syndrome (GS) is a variant of Familial Adenomatous Polyposis (FAP). FAP is characterized by several precancerous adenomatous intestinal polyps while GS has additional distinct extraintestinal features such as congenital hypertrophy of retinal epithelium (CHRPE), which we describe here. 42-year-old male with GS presenting with flashes and floaters observed to have CHRPE-like lesions characteristic of GS. Subtle CHRPE findings differentiate pathological, described in the present case, from non-pathological etiologies and may guide further management. Here we present the signs and symptoms that raise suspicion for GS associated with CHRPE and how to approach management late in the disease presentation.
Identifiants
pubmed: 38350372
pii: S2210-2612(24)00160-3
doi: 10.1016/j.ijscr.2024.109379
pmc: PMC10943999
pii:
doi:
Types de publication
Case Reports
Langues
eng
Pagination
109379Informations de copyright
Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.
Déclaration de conflit d'intérêts
Conflict of interest statement None.
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