Deep palmar phenotyping in atopic eczema: patterns associated with filaggrin variants, disease severity and barrier function in a South Asian population.

BACKGROUND: Hyperlinear palms are described as a feature of loss-of-function (LoF) variants in filaggrin (FLG). OBJECTIVES: To explore the phenotype of participants (age < 31 years) with atopic eczema of Bangladeshi ancestry from East London and investigate which factors best associate with LoF FLG variants. METHODS: A cross-sectional study with participants recruited between May 2018 and December 2020. Patterns of palmar linearity were categorized and modelled with the Eczema Area and Severity Index (EASI), transepidermal water loss (TEWL), skin hydration (SH) and LoF FLG variants. RESULTS: There were 506 complete cases available. Five palm patterns were noted. The 'prominent diamond' pattern associated best with EASI [marginal effects (ME) 2.53, 95% confidence interval (CI) 1.74-3.67], SH (ME 0.85, 95% CI 0.78-0.96) and TEWL (ME 1.32, 95% CI 1.11-1.62). Using five palm patterns had some ability to discriminate LoF FLG variants [area under the receiver operator characteristic (AUROC) 76.32%, 95% CI 71.91-80.73], improving to 77.99% (73.70-82.28) with the addition of SH. In subgroup analysis with only fine perpendicular/prominent diamond patterns the AUROC was 89.11% (95% CI 84.02-94.19). CONCLUSIONS: This was a single-centre study design with humans classifying clinical patterns. The stability of temperature and humidity was not guaranteed across TEWL and SH measurements despite using a climate-controlled room. Palm patterns associate with EASI and TEWL. The fine perpendicular/prominent diamond patterns are markers to detect the absence/presence of LoF FLG variants, respectively.

Large Congenital Cutaneous Mastocytoma Presenting With Recurrent Persistent Blistering: A Case Report.

Congenital cutaneous mastocytoma is an uncommon disorder characterized by abnormal proliferation of mast cells. It typically presents as a single, small, yellowish-brown plaque, and its diagnosis is generally facilitated by distinctive clinical features, including a positive Darrier's sign. This report presents a case of an unusually large, solitary congenital mastocytoma encompassing nearly the entire circumference of the calf, observed in a newborn boy of Bangladeshi origin. Measuring 13x6 cm, the lesion formed large bullae and subsequent erosions. The perplexing clinical appearance prompted a skin biopsy, revealing monomorphic CD117 (c-KIT) positive infiltration without significant cell pleomorphism, confirming the diagnosis of cutaneous mastocytoma. The patient underwent management with potent and very potent topical steroids, oral antihistamines, and non-adhesive dressings, remaining under long-term follow-up with secondary care dermatology. In reporting this case, our objective is to augment the existing scientific literature by providing additional evidence that cutaneous mastocytomas can display a spectrum of clinical presentations, as illustrated in this case.

Vascular compliance is reduced in vascular dementia and not in Alzheimer's disease.

OBJECTIVE: to determine whether functional changes in the vasculature differ between Alzheimer's disease (AD) and vascular dementia (VAD). DESIGN: we determined vascular stiffness in patients with a clinical and radiological diagnosis of either AD or VAD and compared them to normal age- and sex-matched controls. METHODS: In all, 16 patients with late onset AD, 13 subjects with VAD and 16 age- and sex-matched controls were recruited to this study. Central arterial compliance (CAC), augmentation index (AI) and pulse wave velocity (PWV) (measures of arterial stiffness) were measured. RESULTS: the mean age was 77.7 +/- 8.3 years (mean +/- SD) in the AD group, 79.7 +/- 8.9 years in the VAD group and 76.4 +/- 6.9 in the controls (P = 0.44). CAC was significantly lower in subjects with VAD compared to both the AD and the control groups (0.57 +/- 0.46 ml/mm Hg versus 1.12 +/- 0.57 and 1.1 +/- 0.47 ml/mm Hg respectively, P = 0.01). AI was significantly higher in the subjects with VAD compared to both the AD and the control groups (13.3 +/- 9.0 versus 3.5 +/- 11.4 and 4.2 +/- 9.7% respectively, P = 0.03). PWV in the muscular and elastic arteries were not statistically different between the three groups but tended to be highest in the VAD group for carotid-radial measurements. CONCLUSIONS: the reduced CAC and increased AI in VAD subjects indicate that the disease process is associated with less vascular compliance of the large elastic arteries in these patients, but not in patients with AD.