High-resolution cutaneous ultrasonography makes it possible to differentiate lymphoedema from lipoedema. Obtaining a reliable diagnosis through high-resolution cutaneous ultrasonography might be valuable for improving the treatment of lipoedema and lymphoedema.
Background Pseudoxanthoma elasticum (PXE) affects the skin, retina and cardiovascular system. Most cases are related to mutations in the ABCC6 gene. The diagnosis is most often made late in the second or third decade of life. Objectives To describe the manifestations of PXE before the age of 15 years. Methods Children under age 15 years with definite PXE were evaluated at a PXE referral centre, as were adult patients in whom serious manifestations of PXE had occurred before the age of 15 years. Results Our series included 96 patients; 15 (16%) had paediatric onset of the disease. Nine children were diagnosed at a mean age of 10 years, a mean of 2AE5 years after the presenting symptoms. Cutaneous lesions were the presenting symptoms in eight. None had cardiovascular or ophthalmological symptoms. Six adult patients had had severe cutaneous and/or cardiovascular manifestations before the age of 15 years. Both adult patients with early extensive skin lesions had the PXE-like condition related to the GGCX gene. No ocular symptoms were recorded during childhood. Conclusions Cutaneous manifestations of PXE are the same in children as in young adults. Absence of complications is common in childhood, but severe complications are unpredictable. The frequency of complications was retrospectively estimated to be 7% in the adults of our series, although this figure was probably an overestimate because of the recruitment bias in a referral centre. It is, however, important to consider PXE in the paediatric setting, as early diagnosis may be important to provide accurate information and discuss lifestyle adjustments in order to improve the prognosis of the disease.
In France, patients of all ages who consult for dermatology complaints in hospital and in private practice have the most confidence in a physician who wears a professional white coat.
This is the first report on the use of high-resolution ultrasound imaging to assess the efficacy of fractional laser operating with standard parameters. Increase in dermal thickness was evidenced, possibly explained by collagen neosynthesis or conformational changes in the extracellular matrix component, increasing dermal hydration, although there was no modification of SENEB thickness, suggesting that the skin retains the sequelae of ageing. The treatment appeared to be more effective in younger patients, probably because their fibroblasts are more prone to synthesizing collagen. Thinner skins were more effectively treated than thicker skins because they could be stimulated throughout their thickness with the treatment parameters used.
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