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Introduction: Hutchinson Gilford Progeria Syndrome (HGPS) is a rare genetic disorder characterized by segmental childhood premature aging disorder caused by LMNA gene mutation. Children born with this condition are normal at birth but begin to thrive poorly and show evidence of accelerated aging within the first year characterized by hair loss, diminished subcutaneous fat, skeletal abnormalities and cardiovascular disease. They also develop typical facies with proptosis, thin beaked nose, thin lips, micrognathia and prominent ears. Death normally occurs around the age of 13 from heart attack or stroke. Case report: We reported a case of HGPS who first presented at day 45 of life with failure to thrive and thickened sclerodermatous skin. She was evaluated by a dermatologist but no concrete diagnosis was made. She was seen again at the age of 13 and physical examination showed findings consistent with HGPS. Results: Genetic testing showed a de novo LMNA p.Gly608Gly (C .1824C > T) mutation, which is associated with classic HGPS. Conclusion: A patient with classical HGPS who presents during early infancy or neonatal stage with scleromatous skin, should alert one to this diagnosis, especially if failure to thrive is also present. [ABSTRACT FROM AUTHOR]

Background: Identifying patients with BRCA mutations is clinically important to inform on the potential response to treatment and for risk management of patients and their relatives. However, traditional referral routes may not meet clinical needs, and therefore, mainstreaming cancer genetics has been shown to be effective in some high-income and high health-literacy settings. To date, no study has reported on the feasibility of mainstreaming in low-income and middle-income settings, where the service considerations and health literacy could detrimentally affect the feasibility of mainstreaming., Methods: The Mainstreaming Genetic Counselling for Ovarian Cancer Patients (MaGiC) study is a prospective, two-arm observational study comparing oncologist-led and genetics-led counselling. This study included 790 multiethnic patients with ovarian cancer from 23 sites in Malaysia. We compared the impact of different method of delivery of genetic counselling on the uptake of genetic testing and assessed the feasibility, knowledge and satisfaction of patients with ovarian cancer., Results: Oncologists were satisfied with the mainstreaming experience, with 95% indicating a desire to incorporate testing into their clinical practice. The uptake of genetic testing was similar in the mainstreaming and genetics arm (80% and 79%, respectively). Patient satisfaction was high, whereas decision conflict and psychological impact were low in both arms of the study. Notably, decisional conflict, although lower than threshold, was higher for the mainstreaming group compared with the genetics arm. Overall, 13.5% of patients had a pathogenic variant in BRCA1 or BRCA2, and there was no difference between psychosocial measures for carriers in both arms., Conclusion: The MaGiC study demonstrates that mainstreaming cancer genetics is feasible in low-resource and middle-resource Asian setting and increased coverage for genetic testing., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.)