Somatic Mosaicism for a "Lethal" GJB2 Mutation Results in a Patterned Form of Spiny Hyperkeratosis without Eccrine Involvement.

Background: Spiny hyperkeratosis refers to a rare clinical phenotype characterized by nonfollicular keratotic projections and sometimes associated with other acquired and inherited conditions. We describe a case of congenital patterned spiny hyperkeratosis.

Methods: To identify the cause of this disorder, we used a combination of whole exome sequencing, direct sequencing and TaqMan assay.

Second-generation colon capsule endoscopy is feasible in the out-of-clinic setting.

Background: No colorectal imaging test may be performed on an out-of-clinic basis. This represents a major drawback compared with fecal tests. Because colon capsule endoscopy (CCE) automatically detects small bowel mucosa, it has the potential to become the first colorectal imaging test to be performed out-of-clinic.

Accuracy of automatic detection of small-bowel mucosa by second-generation colon capsule endoscopy.

Background: Colon capsule endoscopy (CCE) is a noninvasive technique for the detection of colorectal lesions. However, for CCE to be offered as an out-of-clinic procedure, the system needs to automatically alert the patient when to ingest the laxative (booster).

Objective: We tested the reliability of the automatic detection of the small-bowel (SB) mucosa and the subsequent alert for booster ingestion by the Data Recorder 3 (DR3) of the second-generation CCE (CCE-2).

Does capsule endoscopy have an added value in patients with perianal disease and a negative work up for Crohn's disease?

Aim: To investigate the role of capsule endoscopy in patients with persistent perianal disease and negative conventional work up for Crohn's disease (CD).

Methods: Patients with perianal disease (abscesses, fistulas, recurrent fissures) were evaluated for underlying CD. Patients who had a negative work up, defined as a negative colonoscopy with a normal ileoscopy or a normal small bowel series or a normal CT/MR enterography, underwent a Pillcam study of the small bowel after signing informed consent.

PillCam COLON capsule endoscopy: recent advances and new insights.

Capsule endoscopy for the colon was introduced to allow an alternative screening method to the invasive classic colonoscopy. The results of initial studies have shown inferior detection rates of colonic polyps by the colon capsule. In this paper we aim to review and summarize the recent advances in wireless capsule endoscopy of the colon.