British Association of Dermatologists national clinical audit on the management of Stevens-Johnson syndrome/toxic epidermal necrolysis in adults.

BACKGROUND: UK guidelines for managing adults with Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN), published by the British Association of Dermatologists (BAD) in 2016, outline a set of audit standards. AIM: To audit current management of SJS/TEN in adults against standards in the BAD guidelines. METHODS: BAD members were invited to submit data on five consecutive adults with SJS/TEN per department over an 8-week period in 2022. RESULTS: Thirty-nine (29%) dermatology centres in the UK participated and data for 147 adults with SJS/TEN were collected. Within 24 hours of the diagnosis being made or suspected, the following were documented: SCORTEN for 52% (76/147) of submitted cases, list of medications for 77% (113/147) and timelines for commencement/alterations of medications for 71% (104/147). Initial assessment was documented of the eyes by an ophthalmologist for 48% (71/147) of cases, mouth in 88% (130/147), genital skin in 70% (103/147) and the urinary tract in 63% (93/147). During the first 10 days after a suspected or confirmed diagnosis of SJS/TEN, daily assessments of the mouth were documented in 18% (26/147) of cases, eyes in 8% (12/147) and urinary tract and genital skin in 10% (14/147). Documentation regarding advice on i) avoidance of the culprit drug was present for 58% (76/130) and ii) requesting a MedicAlert® bracelet/amulet in 6% (9/147). CONCLUSION: This audit suggests that a clinical review checklist might be needed to enable colleagues to maintain standards outlined in the guidelines, including documentation of SCORTEN, daily assessments of mucosal areas, and advice to avoid culprit drug(s) and request for a MedicAlert® bracelet/amulet.

Strengths and weaknesses of electronic referral: comparison of data content and clinical value of electronic and paper referrals in dermatology.

One hundred and thirty-one electronic referrals and 129 paper referrals were reviewed and their content analysed. Four items of demographic data were better recorded in the electronic referrals. Three items of clinical data were significantly better recorded in the paper referrals. The mean global clinical score for clinical relevance was greater for paper referrals than electronic referrals. This study illustrates the strength of electronic referrals for communicating demographic data and their weakness when revealing what is wrong with the patient.

Subungual neurothekeoma.

Neurothekeomas are benign tumors probably of nerve sheath origin and are also known as dermal nerve sheath myxomas. They are commonly found on the face, arm, or shoulder and less frequently the lower limbs. To our knowledge, this is the first case of a subungual neurothekeoma affecting the big toe. Histology confirmed a well-circumscribed, multilobulated tumor composed of bland stellate and spindle cells in a copious myxoid matrix staining positive with S100 protein.

Bariatric surgery in morbidly obese insulin resistant humans normalises insulin signalling but not insulin-stimulated glucose disposal.

AIMS: Weight-loss after bariatric surgery improves insulin sensitivity, but the underlying molecular mechanism is not clear. To ascertain the effect of bariatric surgery on insulin signalling, we examined glucose disposal and Akt activation in morbidly obese volunteers before and after Roux-en-Y gastric bypass surgery (RYGB), and compared this to lean volunteers. MATERIALS AND METHODS: The hyperinsulinaemic euglycaemic clamp, at five infusion rates, was used to determine glucose disposal rates (GDR) in eight morbidly obese (body mass index, BMI=47.3 ± 2.2 kg/m(2)) patients, before and after RYGB, and in eight lean volunteers (BMI=20.7 ± 0.7 kg/m2). Biopsies of brachioradialis muscle, taken at fasting and insulin concentrations that induced half-maximal (GDR50) and maximal (GDR100) GDR in each subject, were used to examine the phosphorylation of Akt-Thr308, Akt-473, and pras40, in vivo biomarkers for Akt activity. RESULTS: Pre-operatively, insulin-stimulated GDR was lower in the obese compared to the lean individuals (P<0.001). Weight-loss of 29.9 ± 4 kg after surgery significantly improved GDR50 (P=0.004) but not GDR100 (P=0.3). These subjects still remained significantly more insulin resistant than the lean individuals (p<0.001). Weight loss increased insulin-stimulated skeletal muscle Akt-Thr308 and Akt-Ser473 phosphorylation, P=0.02 and P=0.03 respectively (MANCOVA), and Akt activity towards the substrate PRAS40 (P=0.003, MANCOVA), and in contrast to GDR, were fully normalised after the surgery (obese vs lean, P=0.6, P=0.35, P=0.46, respectively). CONCLUSIONS: Our data show that although Akt activity substantially improved after surgery, it did not lead to a full restoration of insulin-stimulated glucose disposal. This suggests that a major defect downstream of, or parallel to, Akt signalling remains after significant weight-loss.

A gene locus responsible for the familial hair shaft abnormality pili annulati maps to chromosome 12q24.32-24.33.

Pili annulati, a rare hair shaft abnormality with a characteristic shiny appearance due to alternating light and dark bands of the hair, is assumed to be inherited in an autosomal dominant mode with high penetrance. A locus for pili annulati has not been found yet. We identified one large and four small European kindreds with pili annulati and conducted a genomewide linkage analysis using 382 microsatellite markers. A multipoint logarithm of the odds (LOD) score of 3.19 was demonstrated between D12S1659 and D12S1723 on the telomeric part of the long arm of chromosome 12. Subsequent finemapping in a region of 20 cM gave a maximum multipoint LOD score of 3.24 at D12S1723 under the assumption of homogeneity and a LOD score of 3.57 around D12S343 under the assumption of heterogeneity, both exceed the statistical thresholds necessary to conclude linkage. Most of this LOD score came from the largest family, which reached a maximum LOD score of 3.81. The maximum two-point LOD score for all families was 3.97 at D12S1609. Definite recombination events narrowed the region of shared haplotype in the affected individuals to an 8 Mb region between the marker D12S324 and the telomeric end of the long arm of chromosome 12.

Localized longitudinal erythronychia: diagnostic significance and physical explanation.

BACKGROUND: Longitudinal erythronychia (LE) is a term for red streaks in the nail. We describe the range of diseases manifested by localized (single or bifid) LE and explain the underlying physical changes. OBSERVATIONS: Longitudinal erythronychia can be multiple or localized. Multiple lesions typically indicate an inflammatory disease such as lichen planus. When localized, they may be a single or bifid streak arising through a benign or malignant neoplasm, scarring of the dermis or epidermis, or the first stage of an inflammatory process that may evolve into multiple LE. Excision of a localized LE may provide a diagnosis and cure. Incisional matrix biopsy of multiple LE may provide a diagnosis. Clinical manifestation of LE arises through reduced compression of the nail bed due to loss of bulk of the nail plate with a groove on the undersurface. A streak of thinned nail then allows an enhanced view of a corresponding streak of engorged nail bed. The reduction in nail thickness renders it more fragile with a tendency to split distally. CONCLUSIONS: Understanding LE can assist in diagnosis and explanation to the patient. Localized LE may represent a focal tumor or dysplastic process.