Author(s):
Oliveira, Daniela ; Maia, Sofia ; Balacó, Inês ; Coelho, Paulo ; Almeida, Susana ; Venâncio, Margarida ; Saraiva, Jorge ; Nishimura, Gen ; Sousa, Sérgio B
Date: 2024
Persistent ID: http://hdl.handle.net/10400.17/5125
Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
Subject(s): Adenomatous Polyposis Coli Protein / genetics; Adenomatous Polyposis Coli* / diagnosis; Adenomatous Polyposis Coli* / genetics; Adolescent; Fibula / diagnostic imaging; Fibula / pathology; Genes; APC; Germ-Line Mutation; Osteoma* / genetics; HDE GEN
Description
Background: Familial Adenomatous Polyposis (FAP) is a colorectal cancer (CRC) predisposition syndrome caused by germline APC mutations and characterised by an increased risk of CRC and colonic polyps and, in certain forms, of specific prominent extraintestinal manifestations, namely osteomas, soft tissue tumours and dental anomalies. Pachydysostosis of the fibula is a rare clinical entity defined by unilateral bowing of the distal portion of the fibula and elongation of the entire bone, without affectation of the tibia. Clinical report: We report a 17-year-old male, who presented with a non-progressive bowing of the right leg detected at 18 months of age caused by a fibula malformation (later characterized as pachydysostosis) and a large exophytic osteoma of the left radius, noticed at the age of 15 years, without gastrointestinal symptoms. There was no relevant family history. Detailed characterisation revealed multiple osteomas, skin lesions and dental abnormalities, raising the hypothesis of FAP. This diagnosis was confirmed by genetic testing [c.4406_4409dup p.(Ala1471Serfs*17) de novo mutation in the APC gene] and endoscopic investigation (multiple adenomas throughout the colon, ileum and stomach). Discussion: This case report draws attention to the phenotypic spectrum of skeletal manifestations of FAP: this patient has a congenital fibula malformation, not previously associated with this syndrome, but which is likely to have been its first manifestation in this patient. This clinical case also illustrates the challenges in the early diagnosis of FAP, especially without family history, and highlights the importance of a multidisciplinary approach and the adequate study of rare skeletal abnormalities.
