Summary We present a 12‐year‐old girl with a family history of Gorlin syndrome who had unilateral, segmentally arranged basaloid skin tumours present since birth, ipsilateral, palmoplantar pits of rather large size distributed along Blaschko lines, and an ipsilateral odontogenic keratocyst. The patient and her father were heterozygous for a germline mutation in the form of a single‐base substitution in exon 18 of the PTCH1 gene. In the patient's lesional skin, a microdeletion in exon 3 of PTCH1 was detected, giving rise to a truncated protein. This additional mutation was ruled out in the contralateral skin and in blood lymphocytes, thus confirming its mosaic state. In this way we provide for the first time molecular proof of a type 2 segmental involvement of this autosomal dominant trait.

Hydraulic debridement of the RPE in vivo is a useful investigational model that provides important insight into the pathogenesis of outer retinal disorders and their treatment with such techniques as submacular surgery or RPE transplantation.

Summary Two patients are reported in whom early‐onset, distal papules with a histopathological diagnosis of basal cell carcinoma were the first manifestation of Gorlin syndrome (GS). These lesions showed no progression and remained stable through follow‐up. Two different PTCH1 gene mutations were detected in the two patients, and thus a phenotype–genotype correlation of this manifestation of GS was not possible.

Objective We aimed to assess the relationship between major air pollutants and the natural history and mortality of idiopathic pulmonary fibrosis (IPF). Methods We conducted a retrospective cohort study from 2013 to 2019 among 52 patients with IPF from the pneumology department of a tertiary hospital. According to their geocoded residential address, each patient was assigned a mean concentration of carbon monoxide (CO), nitrogen dioxide, particulate matter 2.5 and 10, ozone, and sulfur dioxide, as measured at a single surveillance station in central Madrid, Spain. We analyzed forced vital capacity (FVC), CO diffusing capacity, 6-minute walking test, degree of dyspnea, radiologic pattern, and signs of pulmonary hypertension in all patients. Results Patients’ mean age was 66 ± 10 years, and 79% were men. The mean predicted FVC was 78.9 ± 0.5%. Forty-two patients met the criteria for severe disease, and 18 patients died. Mortality was significantly associated with increased CO exposure (for each 0.1 mg/m2 increase: odds ratio 2.45, 95% confidence interval 1.39–4.56). We observed no association between any of the other investigated contaminants and IPF mortality or severity. Conclusions Air pollution, specifically that caused by carbon monoxide, can increase mortality in patients with IPF.

Background During care transitions, discrepancies and medication errors often occur, putting patients at risk, especially older patients with polypharmacy. Objective To assess the results of a medication reconciliation and information programme for discharge of geriatric patients conducted through hospital information systems. Setting A 1300-bed university hospital in Madrid, Spain. Method A prospective observational study. Geriatricians selected candidates for medication reconciliation at discharge, and sent an electronic inter-consultation request to the pharmacy department. Pharmacists reviewed the medication list, comparing it with electronic prescriptions, medication previously prescribed by primary care physicians and other medical records, and resolved any discrepancies. An individualized and tailored drug information at discharge sheet was sent to geriatricians and made available to primary care physicians. Main outcome measure The number and type of discrepancies, the number, type and severity of errors, and the main pharmacological groups involved. Results Medication reconciliation was performed for 118 patients with a mean age of 87 years (SD 5.9), involving a total of 2054 medications, or 17.4 per patient. Discrepancies were found in 723 (35 %) drugs, 105 of which were considered medication errors (15 %); 66 patients (56 %) had at least one error. This gave 0.9 reconciliation errors per patient reviewed and 1.6 per patient with errors. Of the 105 errors, 14 (13 %) were considered serious. The most frequent errors were incomplete prescriptions (40 %) and omissions (35 %). Conclusion An electronic medication reconciliation programme helps pharmacists detect serious medication errors in frail elderly patients and provides complete and up-to-date written information to prevent additional errors at home.

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Additional Supporting Information may be found in the online version of this article at the publisher's website: Fig S1. Molecular findings. (a, b) Partial sequence of PKP1 exon 3 in the patient and control. (c) Quantitative real-time polymerase chain reaction. (d) Immunofluorescence staining of control and affected skin.Funding sources: none. Conflicts of interest: none declared.

Background/Aims: Autosomal dominant Alport syndrome represents 5% of all Alport syndrome cases. This entity presents a different clinical expression from the recessive inheritance pattern and the X chromosome-linked pattern, because it is mild and it shows a late onset, which in many cases even goes unnoticed. Methods: We carried out a descriptive observational and retrospective clinical study on 19 patients from 5 families with a clinical diagnosis of autosomal dominant Alport Syndrome, and we analyzed the expression of the symptoms in the different families, comparing the results with what has been described in the literature. Results: Renal involvement appeared at a young age, with a progression towards end-stage chronic kidney disease at a median age of 31 years (20.5-36.5). Hearing involvement also appeared in early stages, at a median age of 28.5 years (7.5-62.5). Also, we observed ocular lenticonus-like injuries, which until now have only been described in other inheritance patterns. Conclusions: Our results suggest that dominant patterns are accompanied by a severe clinical expression that can be superimposed to the recessive and X chromosome-linked patterns, contrary to what has been classically stated. The high phenotypic variability observed in the families lead to the fact that many cases go unnoticed and the severest cases are erroneously diagnosed as recessive, which means that the real prevalence of dominant forms is probably higher than the current 5%.