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Abstract Background The diagnosis of Scleroderma En Coup de Sabre (ECDS)/Parry Romberg Syndrome (PRS) is mainly based on characteristic clinical findings. Methods to objectively monitor the course of the disease in a standardized way are lacking. Objectives This descriptive, retrospective, single centre cohort study aims to describe the contribution of 3D photographs in the assessment of the degree of facial asymmetry changes over time in growing children and adolescents with ECDS and PRS. Methods Six patients diagnosed with ECDS/PRS, with a follow‐up period of at least 24 months and at least three 3D photographs were included. Mirroring these 3D photographs was automatically performed using surface‐based matching to generate a colour‐coded distance map, illustrating the inter‐surface distance and thereby asymmetry between the original and mirrored 3D photographs. The percentage of absolute distances between the original and mirrored 3D photograph were calculated. Results In two patients, impressive decreases in the percentages of absolute distance levels over time were found, whereas the other patients did not show progression of asymmetry over time. Conclusion This study shows the potential of 3D stereophotogrammetry as an objective tool to measure disease activity over time in patients with ECDS/PRS.

Abstract Background Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of patients in a single genetic test. Methods In May 2013, we implemented exome sequencing in routine diagnostics for patients suffering from PIDs. This study reports the clinical utility and diagnostic yield for a heterogeneous group of 254 consecutively referred PID patients from 249 families. For the majority of patients, the clinical diagnosis was based on clinical criteria including rare and/or unusual severe bacterial, viral, or fungal infections, sometimes accompanied by autoimmune manifestations. Functional immune defects were interpreted in the context of aberrant immune cell populations, aberrant antibody levels, or combinations of these factors. Results For 62 patients (24%), exome sequencing identified pathogenic variants in well-established PID genes. An exome-wide analysis diagnosed 10 additional patients (4%), providing diagnoses for 72 patients (28%) from 68 families altogether. The genetic diagnosis directly indicated novel treatment options for 25 patients that received a diagnosis (34%). Conclusion Exome sequencing as a first-tier test for PIDs granted a diagnosis for 28% of patients. Importantly, molecularly defined diagnoses indicated altered therapeutic options in 34% of cases. In addition, exome sequencing harbors advantages over gene panels as a truly generic test for all genetic diseases, including in silico extension of existing gene lists and re-analysis of existing data.