In Scotland the incidence of melanoma in women has stabilised, while mortality associated with melanoma in women shows a downward trend.

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A phenotype-driven approach to molecular autopsy based in a multidisciplinary team comprising clinical and laboratory genetics, forensic medicine and cardiology is described. Over a 13 year period, molecular autopsy was undertaken in 96 sudden cardiac death cases. A total of 46 cases aged 1-40 years had normal hearts and suspected arrhythmic death. Seven (15%) had likely pathogenic variants in ion channelopathy genes [KCNQ1 (1), KCNH2 (4), SCN5A (1), RyR2(1)]. Fifty cases aged between 2 and 67 had a cardiomyopathy. Twenty-five had arrhythmogenic right ventricular cardiomyopathy (ARVC), 10 dilated cardiomyopathy (DCM) and 15 hypertrophic cardiomyopathy (HCM). Likely pathogenic variants were found in three ARVC cases (12%) in PKP2, DSC2 or DSP, two DCM cases (20%) in MYH7, and four HCM cases (27%) in MYBPC3 (3) or MYH7 (1). Uptake of cascade screening in relatives was higher when a molecular diagnosis was made at autopsy. In three families, variants previously published as pathogenic were detected, but clinical investigation revealed no abnormalities in carrier relatives. With a conservative approach to defining pathogenicity of sequence variants incorporating family phenotype information and population genomic data, a molecular diagnosis was made in 15% of sudden arrhythmic deaths and 18% of cardiomyopathy deaths.

IntroductionKikuchi-Fujimoto disease, is usually a benign self-limiting disease which typically affects young females under the age of 30 years and resolves without treatment within six months. However, when it occurs in the context of connective tissue disease, particularly systemic lupus erythematosus (SLE), it is usually associated with a flare-up of the patient’s symptoms, requiring treatment, and can lead to severe, potentially life-threatening sequelae.Case descriptionHere, we report and compare two cases of unclassifiable connective tissue disease who developed a Kikuchi-like lymphadenitis and sepsis-like clinical syndrome, including disseminated intravascular coagulation, which proved rapidly fatal.Discussion and evaluationIn our review of the literature, we found 55 cases of Kikuchi-Fujimoto disease occurring in the context of definite connective tissue disease, 50 of which were associated with SLE. Of the 55 cases, 22 (40%) had simultaneous onset with, 19 (35%) predated the onset of and 14 (25%) developed after the associated connective tissue disease. Life-threatening autoimmune sequelae were reported in 8 cases, 2 of which were fatal. The aetiology of the association remains unknown.ConclusionKikuchi-Fujimoto disease is a histopathological diagnosis, and although the classical form appears to represent a distinct entity, it is unclear whether it is always the same entity, regardless of the context in which it occurs, or whether it represents a histological pattern with a variety of possible causes. In any case, the possibility of auto-immune sequelae in patients with known autoimmune disease should always be considered if these patients present with a sepsis-like clinical syndrome and no infective source is identified.

1318 cases of primary malignant melanoma of the skin first presenting in Scotland in the years 1979-83 and registered with the Scottish Melanoma Group are described. The annual age-adjusted incidence rate is 4.75 per 100 000 for females and 2.77 per 100 000 for males. Incidence rose by an annual average of 2.5% over the five-year period. The female: male ratio was 2:1, and 48.5% of all cases were of the superficial spreading histogenetic variety. Five-year survival rates for the patients registered in 1979 confirm the prognostic value of the tumour-thickness (Breslow) measurement. They were 93% for patients with tumours less than 1.5 mm thick (39% of patients), 67% for those with tumours 1.5-3.49 mm thick (30%), and 37% for those with tumours thicker than 3.5 mm (31%). This study shows that methods for early recognition of thin tumours should be encouraged.