The sign of Leser–Trélat is a paraneoplastic phenomenon consisting of a sudden eruption of seborrhoeic keratoses. It is credited to two surgeons, Edmund Leser (1853–1918) and Ulysse Trélat (1827–1890), who described cutaneous lesions associated with internal malignancies. Edmund Leser, the author of the Textbook of Special Surgery in 50 Lectures, initially studied law in Bonn before qualifying in medicine in Leipzig in 1880. He became Richard von Volkmann’s assistant at Martin Luther University. He was awarded his chair of surgery in 1894, 10 years after becoming a surgeon, and he practised in Goethe University, Frankfurt. Ulysse Trélat was born in Paris in 1827. His father was a republican political activist, Minister of Public Works and known as the founder of public hygiene in France. Ulysse Trélat was employed as an assistant anatomist in surgery at the ‘École Pratique’ 1 year before graduating high school in 1844. He finished his medical studies in 1854 and became a surgeon in 1857. In 1858, he was running the anatomy course in ‘École Pratique’. He replaced Paul Broca, well known for his research on Broca’s area in the frontal lobe, at Hospital Necker in 1880. In 1884, he was awarded a chair of surgery at ‘Hospital de la Charite’, replacing Leon Athanase Gosselin. Notable among his works is the description of the ‘Baizeau and Trélat method’ of surgical repair of cleft palate, and his book Clinique Chirurgicale. Leser and Trélat independently published papers describing skin lesions associated with mammary carcinoma and visceral malignancies. However, their description of cutaneous lesions was more in keeping with the appearance of senile angiomata or Campbell de Morgan spots. Therefore, the credit should go to Eugen Von Hollander (1867–1932), another German surgeon who accurately described the lesions in a paper published in 1900 titled ‘Contributions to the early diagnosis of intestinal carcinomas’. He observed skin changes associated with internal malignancies consisting of an eruption of flat, shiny, pigmented, glandular, epithelial growths similar to seborrhoeic warts or verrucae seniles in young patients with cancer. He hypothesized that there might be a link between abnormal epithelial proliferation in internal organs and skin keratinocyte proliferation. He is remembered for performing the first facelift, on a Polish aristocrat in 1912. The sign of Leser–Trélat is so deeply embedded in medical literature and the minds of modern practitioners that it is unlikely to ever be erased. However, the contribution of Eugen Von Hollander should not be forgotten.

Epidermolysis bullosa simplex (EBS) is a heterogeneous, congenital, mucocutaneous fragility syndrome, characterized ultrastructurally by cleavage within the basal keratinocyte. Seventy-five per cent of cases are attributable to mutations in KRT5 and KRT14, the vast majority of which are dominant negative mutations, resulting in impaired keratin intermediate filament dynamics within the basal layer of the epidermis. The presenting phenotype, including extracutaneous manifestations and overall severity, is often closely linked to the underlying genetic mutation; however, genotype–­phenotype correlation is poorly resolved in a minority of cases, and there is an approximately additional 15% of patients in whom genetic abnormalities are not identified. However, recent advances in next-generation sequencing technologies have expanded the mutational database. We describe two cases of EBS with rare underlying mutations and distinct clinical phenotypes. A 46-year-old man presented with widespread blistering primarily affecting his hands, feet, elbows and knees since childhood. He had unaffected, consanguineous parents and one of his three siblings was affected. Other presenting features included dystrophic nails, focal plantar keratoderma, truncal mottled pigmentation and large areas of hypopigmentation on the back. We considered a diagnosis of ‘EBS with mottled pigmentation’, but the autosomal recessive mode of inheritance and dystrophic nails were atypical. DNA whole-exome sequencing (WES) and bidirectional Sanger sequencing revealed a novel homozygous PLEC mutation [c.94dupG p.(Ala32GlyfsTer3)]. Pathogenic PLEC variants are known to cause autosomal dominant EBS, the Ogna type (MIM131950), autosomal recessive EBS with muscular dystrophy (MIM226670) and autosomal recessive EBS with pyloric atresia (MIM612138). To date, our patient has not manifested any signs of progressive muscle weakness, but the presenting age can vary. The second patient was a 30-year-old woman who presented with blistering on her flexures, feet, hands and friction sites since the age of 4 months. She had unaffected, consanguineous parents and eight unaffected siblings. WES and confirmatory bidirectional Sanger sequencing identified a homozygous nonsense mutation in DST [c.3370C>T p.(Gln1124Ter)]. DST encodes the epithelial isoform of bullous pemphigoid antigen-1, present in the skin, muscle and neuronal tissues. Only 11 patients with DST mutation-induced EBS have been reported to date. The cutaneous phenotype is reported to be blisters, postinflammatory dyspigmentation, scarring, nail dystrophy, keratoderma and hyperhidrosis. If the affected exon is present in neuronal isoforms and neuronal tissue, neurological symptoms are expected. Unlike the patient reported elsewhere who harbours exactly the same mutation, our patient has reported no neurological issues to date. These cases highlight the importance of unravelling genotype–phenotype correlation in rare autosomal recessive forms of EBS, with possible implications for future prognosis and management.

A 13-year-old boy was seen in the urology clinic for hypo­pigmented patches on the glans penis. He underwent circumcision for presumed balanitis xerotica obliterans, but histological examination of the skin showed lichen planus (LP). This prompted a full skin check by the team, which showed similar patches on the scrotum, anus and ears. A referral was made to dermatology for further assessment. Closer history revealed a 1-year history of inflamed patches behind the ears that spread to the periorbital and penile regions. Concurrent patchy hair loss was noted over this time period; otherwise, he was asymptomatic, with no relevant past medical or family history. Full skin check revealed extensive areas of well-circumscribed erythema on the penis, peri-orbitally and within the conchal bowl of both ears. Areas of scarring alopecia were present with complete loss of the eyelashes. The severity of his condition warranted the immediate commencement of high-dose oral steroid therapy and a trial of protopic 0.1% ointment. A review 6 months later showed no further erythema but areas of clearly defined depigmentation where there was previously active LP, particularly across the nose and periorbitally, consistent with vitiligo. Ongoing follow-up at 1 year showed the stable appearance of these areas, despite ongoing use of topical calcineurin inhibitor. Co-localization of vitiligo in the context of LP is a rare entity, noted in only 10 case reports in the literature. The fact that both LP and vitiligo are common, each said to affect 1–2% of the general population, may mean that their association is merely a coincidence. However, a number of publications suggest that a causal link must be present as similar immunological mechanisms are shared by the two conditions. The aetiology of both LP and vitiligo is known. Various theories exist, including the autoimmune hypothesis, as both conditions are immunologically mediated. Another assumes inflammatory mediator release from ultraviolet damage, particularly on areas of photosensitive depigmented skin. A third supposes that photodamage induces Koebner phenomenon on vitiligo-affected skin, resulting in LP on these areas. No theory has been proven definitively. In most cases, vitiligo is described as the precursor disease; rarely, both diseases occur concomitantly and progress together. We present a rare case of LP preceding vitiligo. Our case not only demonstrates the importance of a full skin examination in diagnosing lesions, but provides further evidence that this association is more than coincidental. More studies into these conditions are needed to understand this phenomenon in its entirety.

SUMMARYThe ECG is a test that is used frequently in the acute setting. It has a significant impact on decisions regarding patient discharge and further investigations. On a single day in the ambulatory emergency care setting two patients presented with chest pain. The ECG findings were abnormal, but also out of context with the clinical findings. On close inspection of the ECG machine it was identified that although all leads attached to the patient were in the correct position, the two cables connecting the leads to the machine had been reversed. Had the error not been discovered promptly there was the potential that further, more harmful investigations would have been performed. These cases highlight that although the ECG is a simple and non-invasive investigation it should be an adjunct to clinical working diagnosis. BACKGROUND