Insights into proton pump inhibitor-induced photosensitivity: An observational study in a tertiary photobiology service.

BACKGROUND: Proton pump inhibitors (PPIs) are extensively prescribed but may cause photosensitivity and drug-induced lupus erythematosus (DILE), which can be overlooked as the drug may have been taken for years prior to presentation. METHODS: We reviewed the clinical and investigation findings of patients diagnosed with PPI-induced photosensitivity, diagnosed through the Scottish Photobiology Service. RESULTS: We report 11 patients with median age of onset 61-years and mean duration of PPI ingestion of 5-years [DILE (n = 6), phototoxicity (n = 3) and drug-induced solar urticaria through a lupus mechanism (n = 2)]. Five had Anti-Ro antibodies (three also ANA positive). Predominantly UVA and visible light photosensitivity was observed on phototesting. DISCUSSION: PPIs are a reversible cause of photosensitivity and DILE. Time to onset from drug initiation to symptoms can be prolonged, so clinicians should have a high index of suspicion in those taking PPIs. Most are diagnosed through clinical assessment and lupus serology, with phototesting indicated if there is diagnostic uncertainty.

Improving Hearing Aid Self-Efficacy and Utility Through Revising a Hearing Aid User Guide: A Pilot Study.

PURPOSE: This pilot study aimed to investigate whether revising a hearing aid user guide (HAUG) is associated with improved hearing aid self-efficacy and utility performance. METHOD: In Part 1, an HAUG was evaluated using the Suitability Assessment of Material (SAM) and readability formulas (Flesch Reading Ease [Flesch, 1943], Flesch-Kincaid Readability Formula [Kincaid, Fishburne, Rogers, & Chissom, 1957], and Simple Measure of Gobbledygook [McLaughlin, 1969]). The HAUG was revised using results from the SAM and best practice guidelines. The revision included generating a video. In Part 2, 30 adults with hearing impairment were randomly assigned to use either the original guide (N = 15) or the revised guide and video (N = 15) to perform a utility task. Participants' self-efficacy was measured using the Basic and Advanced Handling subscales of the Measure of Audiologic Rehabilitation Self-Efficacy for Hearing Aids questionnaire. SAM and readability were compared between the original and revised guides (Doak, Doak, & Root, 1996). RESULTS: SAM and readability were improved following the revision. Participants in the revised guide group performed significantly better on the utility task and on the Measure of Audiologic Rehabilitation Self-Efficacy for Hearing Aids subscales than participants in the original guide group. CONCLUSIONS: These results are encouraging as they indicate that there is scope to influence self-efficacy and utility performance through the use of appropriate HAUGs.

A large mutational study in pachyonychia congenita.

Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder characterized predominantly by nail dystrophy and painful palmoplantar keratoderma. Additional clinical features include oral leukokeratosis, follicular keratosis, and cysts (steatocysts and pilosebaceous cysts). PC is due to heterozygous mutations in one of four keratin genes, namely, KRT6A, KRT6B, KRT16, or KRT17. Here, we report genetic analysis of 90 new families with PC in which we identified mutations in KRT6A, KRT6B, KRT16, or KRT17, thereby confirming their clinical diagnosis. A total of 21 previously unreported and 22 known mutations were found. Approximately half of the kindreds had mutations in KRT6A (52%), 28% had mutations in KRT16, 17% in KRT17, and 3% of families had mutations in KRT6B. Most of the mutations were heterozygous missense or small in-frame insertion/deletion mutations occurring within one of the helix boundary motif regions of the keratin polypeptide. More unusual mutations included heterozygous splice site mutations, nonsense mutations, and a 1-bp insertion mutation, leading to a frameshift and premature termination codon. This study, together with previously reported mutations, identifies mutation hotspot codons that may be useful in the development of personalized medicine for PC.