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.
Fabry disease (FD) is a lysosomal storage disorder. The prevalence and clinical spectrum is higher than previously thought. The average time between onset of symptoms and diagnosis is 10 years. Early identification of patients is essential to institute enzyme therapy and reduce morbidity. We report the case of a 76-year-old man, who presented with loss of consciousness following exertional chest pain. He was found to have tortuous corneal vessels, > 100 cherry angiomas on his trunk, and angiokeratomas on his scrotum. The latter were indistinguishable from angiokeratoma of Fordyce, a diagnosis reported in 15% of men over the age of 50 years, and generally ignored by them. The patient's α-galactosidase levels were low, and a mutation in exon 5 of the GLA gene was identified on DNA analysis, confirming the diagnosis of FD. This case highlights the importance of considering a diagnosis of FD in all male patients with angiokeratoma. It also raises the question of whether the presence of multiple cherry angiomas in patients with cardiac disease should raise the possible diagnosis of FD.
We developed a relatively simple but effective technique for the closure of large wounds resulting from the excision of tumours. Our technique consists of two longitudinal, parallel, transposition flaps obtained from two opposite sides of the wound, with major axes orientated in the cephalic-caudal direction. The two flaps are then rotated around two fulcra placed at two extremes of the wound by approximately 90 degrees . This relatively simple technique has never caused any of the ordinarily associated problems in terms of necrosis or ulcer development. In addition, dehiscence of sutures never occurred, given the fact that suture tension is minimal. Quick healing has resulted in the majority of cases, avoiding all the problems associated with grafting or other traditional flap techniques.
Background
Hyperlinear palms are described as a feature of loss-of-function (LoF) variants in Filaggrin (FLG).
Objective
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 March 2020. Patterns of palmar linearity were categorised and modelled with Eczema Area and Severity Index (EASI), transepidermal water loss (TEWL), skin hydration (SH) and LoF FLG variants.
Results
Five hundred and six complete cases were available. Five palm patterns were noted. The ‘prominent diamond’ pattern associated best with EASI (marginal effects [ME], 2.53, 95% CI 1.74-3.67), TEWL (ME 1.32, 95% CI 1.11-1.62) and SH (ME 0.85, 95% CI 0.78-0.96). Using five palm patterns had some ability to discriminate LoF FLG variants (area under the receiver operator characteristic [AUROC] 76.07; 95% CI 71.58-80.57), improving in subgroup analysis with only fine perpendicular/prominent diamond patterns and SH (AUROC 89.11%; 95% CI 84.02-94.19).
Limitations
Single centre study design with humans classifying clinical patterns. Stability of temperature and humidity not guaranteed across TEWL and SH measurements despite using a climate controlled room.
Conclusion
Palm patterns associate with EASI and TEWL. The fine perpendicular/prominent diamond patterns are markers to detect absence/presence of LoF FLG variants respectively.
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