Differentials

Juvenile polyposis syndrome

SIGNS / SYMPTOMS
INVESTIGATIONS
SIGNS / SYMPTOMS

Polyposis is more likely to occur in the colorectum. Increased prevalence of massive gastric polyposis and of hereditary hemorrhagic telangiectasia.[25][26] Mucocutaneous pigmentation is absent.

INVESTIGATIONS

Juvenile polyps do not have the arborizing smooth muscle of the muscularis mucosae that characterizes Peutz-Jeghers polyps. Germline testing for SMAD4 and BMPR1A gene mutations may reveal pathogenic variants.[27]

PTEN-hamartoma tumor syndrome

SIGNS / SYMPTOMS
INVESTIGATIONS
SIGNS / SYMPTOMS

Clinical presentation may be similar. Macrocephaly is a common feature. Patients may have cutaneous lesions including trichilemmomas and papillomatous papules.[28]

INVESTIGATIONS

Germline testing for PTEN gene mutations may reveal pathogenic variants.[28]

Mixed hereditary polyposis syndrome

SIGNS / SYMPTOMS
INVESTIGATIONS
SIGNS / SYMPTOMS

Clinical presentation may be similar. Mucocutaneous pigmentation is absent.[29]

INVESTIGATIONS

Germline testing for SCG5/GREM1 gene mutations may reveal pathogenic variants.[30]

Familial adenomatous polyposis

SIGNS / SYMPTOMS
INVESTIGATIONS
SIGNS / SYMPTOMS

Clinical presentation may be similar. May have other extracolonic features (e.g., osteomas, dental abnormalities, congenital hypertrophy of the retinal pigment epithelium, desmoid tumors, and adrenal masses). Mucocutaneous pigmentation is absent.[31]

INVESTIGATIONS

Histology shows adenomatous, rather than hamartomatous, polyps throughout the colorectum. Germline testing for APC gene mutations may reveal pathogenic variants.[31]

Familial adenomatous polyposis syndromes

Lynch syndrome

SIGNS / SYMPTOMS
INVESTIGATIONS
SIGNS / SYMPTOMS

Patients may develop a few adenomas over their lifetime but not hamartomatous polyps. Mucocutaneous pigmentation is absent.

INVESTIGATIONS

Germline testing or tumor testing may reveal a deleterious mutation in specific DNA mismatch repair genes (MLH1, MSH2, MSH6, and PMS2) or the EPCAM gene.[32]

Carney complex

SIGNS / SYMPTOMS
INVESTIGATIONS
SIGNS / SYMPTOMS

Polyps are not known to occur as part of Carney complex.

Patients may have a history of myxomas (heart, skin, and breast), endocrine dysfunction and tumors, and schwannomas.[33]

INVESTIGATIONS

Germline testing for PRKAR1A gene mutations may reveal pathogenic variants.[33]

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