A new gastrointestinal finding in Proteus syndrome: report of a case of multiple colonic hemangiomas

Abstract

A patient with Proteus syndrome presented with lower gastrointestinal bleeding due to multiple colonic hemangiomas, a finding which has not been described previously in this syndrome. The patient was a 20-year-old man with features fulfilling the diagnostic criteria for Proteus syndrome. He fulfilled both general criteria (mosaic distribution of the lesions, progressive course and sporadic occurrence) and specific criteria (including epidermal nevus, disproportionate overgrowth of limbs and vascular malformations). Fiberoptic colonoscopy revealed multiple hemangiomas, 0.5-1 cm in diameter, on the left side of the colon. Some gastrointestinal complications have been reported in patients with Proteus syndrome, including rectal polyps, colonic lipomatosis, atrophy of the intestinal villi and intestinal affection with fatty wall thickening but, as far as we are aware, colonic hemangiomas have not previously been reported in this syndrome.

Thoracolumbar Scoliosis in a Patient With Proteus Syndrome

“… 1 , 15 It is hypothesized to be caused by a new, mosaic, mutation acquired early in development; cells derived from the mutated cell line carry this mutation and result in affected tissues. 16 , 17 For this patient, we propose that the localized overgrowth of the right lumbar facets and pedicles were the result of hemihypertrophy based on PS, not the influence of mechanical stress.…”

A Case of Cap Polyposis with Epidermal Nevus in an Infant

“…Hence, some skin lesions are associated with intestinal diseases. For example, Proteus syndrome is characterized by epidermal nevus and colonic hamartomas (17). A case of Gardner syndrome with epidermal nevus reported by Romiti et al (18) is another example.…”

Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view

“…CD is part of the PTEN hamartoma tumor syndrome spectrum, which includes Bannayan–Riley–Ruvalcaba syndrome (OMIM 153480) (characterized by lipomatosis, macrocephaly, vascular malformations, and pigmented macules of the glans penis), Proteus‐like syndromes (with significant features of Proteus syndrome, but not meeting the diagnostic criteria), and macrocephaly/autism syndrome (OMIM 605309) 7–12 …”

“…CD is part of the PTEN hamartoma tumor syndrome spectrum, which includes Bannayan-Riley-Ruvalcaba syndrome (OMIM 153480) (characterized by lipomatosis, macrocephaly, vascular malformations, and pigmented macules of the glans penis), Proteus-like syndromes (with significant features of Proteus syndrome, but not meeting the diagnostic criteria), and macrocephaly/autism syndrome (OMIM 605309). [7][8][9][10][11][12] Thus, PTEN mutations should perhaps be sought for more often in patients fulfilling a subset of the criteria; however, there are patients who have pathognomonic symptoms without any mutation. This observation is suggestive of genetic heterogeneity.…”