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. RESULTS: We found that the peculiar clinical features displayed by the patient are due to somatic mosaicism for a heterozygous mutation in the GJB2 gene. CONCLUSION: Because histopathologic examination of two independent biopsies did not reveal porokeratotic eccrine ostial and dermal duct nevus (PEODDN), previously reported to result from somatic mutations in GJB2, it appears that mutations in this gene can cause nevoid spiny hyperkeratosis in the context of PEODDN or as an isolated finding.

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. This study aimed to evaluate the feasibility and efficiency of CCE when offered as an out-of-clinic procedure. METHODS: Patients with known or suspected colonic diseases who had up to 40 min of travel time from clinic to home were offered CCE as an out-of-clinic procedure. These patients were provided with four numbered vials (1 with metoclopramide, 2 with sodium phosphate, 1 with bisacodyl) and detailed instructions on how to interact with data-recorder automatic signaling. Patient compliance with data-recorder instructions, CCE excretion, and detection rates were prospectively assessed. RESULTS: The study enrolled 41 patients (29 men) with a mean age of 57 years. According to data recorder DR3-registered alerts, 14 patients (34 %) required a single booster only, 27 patients (66 %) required two boosters, and 13 patients (32 %) required a suppository. Comparison of the DR3 alerts with the returned vials showed that patient compliance to DR3 alerts was 100 %. During the procedure, 16 patients (39 %) called the physician/clinic from home. In 85 % of the cases, the CCE was excreted within the battery operating time. Lesions size 6 mm or larger were detected in 10 (24 %) of the 41 patients. CONCLUSIONS: As an out-of-clinic procedure, CCE is feasible and easily performed. A home-based procedure may be associated with better acceptability and potentially with increased adherence to Colorectal cancer screening.

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). DESIGN AND SETTING: Retrospective analysis. PATIENTS AND INTERVENTION: Data from 120 consecutive cases of CCE-2 were analyzed for proper DR3 automatic detection of the capsule entering the SB to prompt the patient to ingest the laxative booster. MAIN OUTCOME MEASUREMENTS: Accuracy of the DR3 for detecting the SB mucosa. RESULTS: The DR3 correctly identified the proper time for ingestion of the laxative (booster) in 118 of 120 cases, corresponding to a sensitivity of 98.3% (95% CI, 97%-100%). The median time difference between DR3 automatic SB detection to the observed entrance of the capsule into the SB was 3 minutes 30 seconds (interquartile range 2 minutes 35 seconds to 5 minutes 57 seconds). LIMITATION: Retrospective analysis. CONCLUSIONS: The 98.3% sensitivity of the DR3 for automatic identification of the SB mucosa and subsequent alert for the first laxative (booster) ingestion paves the way for CCE-2 to be offered as an out-of-clinic procedure.

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. Publications regarding the use of colon capsule with new technology, as well as personal experience, were reviewed. Since the introduction of the first generation of the colon capsule, many improvements have been made to create a better capsule endoscope. These include a wider angle of view, a faster adaptable frame rate and a new data recorder which is able to control the capsule activity during the transit through the bowel. Recent studies show these improvements had a direct effect on the colon capsule performance, leading to a better diagnostic yield. Recent advancements in the technology of the wireless colon capsule endoscope offer the option to screen patients for colonic polyps noninvasively. Colon capsule endoscopy may become relevant for assessment of extent of inflammatory bowel disease.