Cutaneous manifestations |
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| Affiliation: | 1. Department of Applied Pharmacology, Faculty of Pharmaceutical Sciences, University of Toyama, Toyama, Japan;2. 21st Century COE program, University of Toyama, Toyama, Japan;1. Sorbonne Universités, UPMC Université Paris-6, UMR S 702, Paris, France;2. APHP, Service des Explorations Fonctionnelles, Hôpital Tenon, 75020 Paris, France;3. Sorbonne Universités, UPMC Université Paris-6, CNRS, Collège de France, Laboratoire de Chimie de la Matière Condensée de Paris (LCMCP), 11, place Marcelin-Berthelot, 75005, Paris, France;4. Laboratoire de Physique des Solides, Université Paris-Sud, CNRS, UMR 8502, 91405, Orsay cedex, France;1. Department of Radiology, Assistance Publique-Hôpitaux de Paris, Bichat University Hospital, 75018 Paris, France;2. Department of Neuroradiology, Centre Hospitalier Sainte-Anne, Université Paris-Descartes, INSERM UMR 894, Paris, France;3. Department of Infectious Diseases, Assistance Publique-Hôpitaux de Paris, Bichat Claude-Bernard Hospital, Paris, France;4. INSERM Clinical Investigation, Center 007, INSERM U738, University Paris 7, Paris, France;5. INSERM U1148, University Paris 7, Bichat Hospital, Paris, France;1. Sorbonne Universités, UPMC Univ Paris-6, CNRS, Collège de France, Laboratoire de chimie de la matière condensée de Paris, 11, place Marcelin-Berthelot, 75005 Paris, France;2. CNRS, LPS, Ba510, Université Paris-11, 91405 Orsay, France;3. Sorbonne Universités, UPMC University Paris-6, UMR S 1155, 75005 Paris, France;4. AP-HP, Hôpital Tenon, Explorations fonctionnelles multidisciplinaires, 75020 Paris, France;5. Department of Chemistry, Clemson University, Clemson, SC, USA |
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| Abstract: | Characteristic and pathognomonic skin lesions in flexural sites are the hallmark of hereditary PXE. Because existence of these lesions was taken as the single essential diagnostic criterion for hereditary PXE, all of the patients in the present group had such lesions to one degree or another. Without typical lesions in flexural sites, the diagnosis remains in question, although very early or subclinical histologic expressions in normal-appearing flexural skin may rarely occur and present confounding diagnostic dilemmas.PXE skin lesions usually appear during childhood or adolescence and progress slowly with age and duration of disease, normally beginning on the lateral neck and later involving the flexural sites of the trunk and lower extremities. The disorder progresses at vastly different rates for unknown reasons. Rare, late-onset skin lesions, as late as the fifth decade of life, are of immense theoretical interest and may represent a unique new subset of PXE.In patients with the most extensive skin involvement of long duration, the skin gradually loses its original pebbly, leathery look and becomes thickened with heavy, redundant, sagging folds. The neck, axillae, and groins are particularly susceptible. Similar involvement of the face may occur; however, the admixture with solar elastosis often makes it difficult to tell which of the two processes accounts for most of the clinical change.Mucosal lesions are common, most often occurring in the buccal mucosa and occasionally involving the anogenital mucosa in those with the most extensive skin lesions.Various, unusual, and uncommon skin lesions may occur, including examples of transepiderma1 elimination, called perforating PXE, that resemble EPS but differ from it in that the material extruded in perforating PXE is calcified, which is not the case in ordinary EPS. Acneiform lesions and depressed, scarred, “burned out” flexural areas have been described. |
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