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Pseudoxanthoma elasticum (PE) is a rare genetic disease characterized by calcification and fragmentation of elastic fibers of the skin, retina, and cardiovascular system. We report a case of PE in which fractional carbon dioxide laser treatment was successfully used to achieve improvement of the cervical skin with 2-year follow-up, in a patient wit...
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... 15 days after the last session, she developed wa- tery blisters or vesicles, with discharge and itching, in the cervical region (Fig. 1). The results of a biopsy were consistent with herpes simplex, and she was treated with acyclovir (1 g/d for 20 days), cephalexin, and topical betamethasone in the first 6 days. Com- plete resolution of the symptoms occurred after 20 days, but this area showed postinflammatory hyper- pigmentation, which persisted for 18 months, when treatment with 0.015% tretinoin cream and 2% hy- droquinone was prescribed with partial ...
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Pseudoxanthoma elasticum is a rare autosomal recessive disease, which is well-known for its affection of three major organ systems: skin, eye and cardiovascular systems, in particular large elastic arteries. This case is one of the first demonstrations of microvascular alterations in patients Pseudoxanthoma elasticum and offers hypotheses for their...
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... Bőrtünetek kezelése Az életminőséget rontó bőrtünetek plasztikai sebészeti beavatkozásokat tehetnek szükségessé. Enyhébb körülírt bőrtünetek esetén a frakcionált CO 2 lézer kezelés megfelelő esztétikai eredményhez vezet [47]. Korábbi hazai közlemény a lokális kortikoszteroid és a krioterápia lehetséges hatásosságát is felveti [48]. ...
Összefoglaló. A pseudoxanthoma elasticum (PXE, OMIM # 264800) egy autoszomális recesszív módon öröklődő multiszisztémás érintettséggel járó kórkép, melynek háttérében az ABCC6 gén mutációi állnak. A tünetek kialakulásának oka az ektópiás mineralizáció. Kalcium-só kristályok rakódnak le elsősorban a bőrben, a szem Bruch-membránjában és az erek endotheliumában, így a bőrelváltozások mellett a látás csökkenése és cardiovascularis eltérések is jelentkezhetnek. A klinikai tünetek változó súlyosságúak lehetnek, heterogén megjelenésűek. A betegek fenotípusának azonosítása, valamint gondozása multidiszciplináris feladat, bőrgyógyász, szemész, kardiológus és klinikai genetikus együttműködésén alapul. Célunk, hogy bemutassuk a betegségben előforduló tüneteket, melyek ismerete megkönnyíti a kórkép felismerését, illetve hogy felhívjuk a figyelmet a korai diagnózis fontosságára és ismertessük a korszerű diagnosztikai módszereket. A súlyos szisztémás tünetek kialakulása miatt rendkívüli jelentőséggel bír a társszakmák együttműködése, hogy a korai diagnózis által időben megfelelő gondozásban és terápiában részesülhessenek a betegek. Orv Hetil. 2022; 163(18): 702-711. Summary. Pseudoxanthoma elasticum (PXE, OMIM # 264800) is an autosomal recessive, multisystemic disorder, associated with mutations of the ABCC6 gene. Ectopic mineralization is in the background of the clinical manifestations of the disease. Calcium-salt crystals are deposited primarily in the skin, in the Bruch membrane of the eyes, and in the vascular endothelium. Thus, in addition to the skin lesions, visual impairment and cardiovascular involvement also occur. Clinical symptoms show varying severity and display heterogeneous appearance. The identification of the phenotype and care of the patients require a multidisciplinary perspective based on the collaboration of a dermatologist, ophthalmologist, cardiologist, and clinical geneticist. The aim of our work is to describe the development of symptoms of the disease, in order to facilitate the diagnosis. In addition, we aim to draw attention to the importance of early diagnosis of pseudoxanthoma elasticum, and to present modern diagnostic methods. Considering the development of severe systemic complications, the early diagnosis with the collaboration between related specialists is crucial to provide optimal clinical care and management of the patients. Orv Hetil. 2022; 163(18): 702-711.
... Cutaneous sagging can be corrected by surgery for cosmetic improvements [23]. Carbon dioxide laser has better outcomes for corrections of texture and irregularity of cutaneous alterations [24]. ...
•PXE is an extremely rare autosomal recessive disease.•It involves major systems in the body like the cutaneous, ocular, cardiovascular, and gastrointestinal.•The characteristic histopathological features are calcification and fragmentation of the elastic fibres.•Currently, specific or effective treatment is not available.
... There is one reported case of skin resurfacing by using a fractional CO2 laser [28]. Herein, multiple applications were necessary with only moderate improvement. ...
Pseudoxanthoma elasticum (PXE) is a rare, genetic, metabolic disease with an estimated prevalence of between 1 per 25,000 and 56,000. Its main hallmarks are characteristic skin lesions, development of choroidal neovascularization, and early-onset arterial calcification accompanied by a severe reduction in quality-of-life. Underlying the pathology are recessively transmitted pathogenic variants of the ABCC6 gene, which results in a deficiency of ABCC6 protein. This results in reduced levels of peripheral pyrophosphate, a strong inhibitor of peripheral calcification, but also dysregulation of blood lipids. Although various treatment options have emerged during the last 20 years, many are either already outdated or not yet ready to be applied generally. Clinical physicians often are left stranded while patients suffer from the consequences of outdated therapies, or feel unrecognized by their attending doctors who may feel uncertain about using new therapeutic approaches or not even know about them. In this review, we summarize the broad spectrum of treatment options for PXE, focusing on currently available clinical options, the latest research and development, and future perspectives.
... The reaction of the PXE-affected skin was similar to that of the normal skin and results lasted 2 years with improvement of skin texture, surface irregularities and distensibility. 16 Moreover, non-ablative lasers (e.g. Fraxel) has been used solitarily with reported evidence of collagen & elastin enhancement and remodeling in the papillary dermis. ...
Aim: The physiological ageing process causes significant changes in the extracellular matrix (ECM) of the neck skin, which are the first signs of ageing witness for women. We are inspired by a young woman, who suffers from a rare genetic disorder called pseudoxanthoma elasticum (PXE), which manifests irregular, thickened, fragmented and haphazardly orientated elastic fibers. We herein present a combination of three different therapies (laser skin resurfacing, type I horse collagen boosters and platelet rich plasma)as an approach to ameliorate neck skin sagging. Methods: A 28-year-old Roma woman with a clinically diagnosed PXE, verified by ophthalmologic evidence and skin biopsy, underwent 3 sessions of this combined protocol every 3 weeks. One month after the last treatment session, a new biopsy was taken. During this period, the patient was encouraged for daily topical application of collagen mousse and vitamin C combined with sun block SPF50, along with limited exposure to sunlight. Results: Clinical assessment supported by photographic documentation was performed at each session. Severe changes in hydration and tightening of the neck skin were obvious 3 weeks after the second session, although the verification of the results was substantiated with the pathology of the post treatment skin biopsy obtained 1 month following the completion of the protocol. The elastic fibers in the mid-dermis were dense, non-fragmented and parallel oriented. The aesthetic performance was evident until the final follow-up visit. Conclusions: Nowadays, the primary goal of aesthetic medical research is oriented to the dermis bio-reconstruction, where specific treatments try to improve the dermis quality from the inside to repair imperfections of skin ageing. The key of success is attributed to the best possible treatment combination capable of fibroblast stimulation.
... Carbon dioxide laser skin resurfacing had promising results with significant improvement in skin irregularity and elasticity, color, texture/hydration, and volume. Results were maintained at 2-year follow up [12]. ...
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder characterized by atypical elastic fibers that causes connective tissue abnormalities of the skin, eyes, and heart, among other organs. The disorder is rare, with a classic presentation of yellow-orange cobblestone-like papules on flexural areas, lax skin, ocular degeneration, and moribund vasculature in multiple organs. There is wide variability in the presentation of the affected organs [1]. We present two sisters with classic cutaneous findings of PXE with the additional unusual findings of numerous open comedones on the neck. To our knowledge, this is the first report of numerous open comedones in familial PXE.
... Carbon dioxide laser skin resurfacing had promising results with significant improvement in skin irregularity and elasticity, color, texture/hydration, and volume. Results were maintained at 2-year follow up [12]. ...
... However, potential complications including tissue fragility and slow wound healing should be considered [15]. More recently, a case report described the use of a fractional CO2 laser on cutaneous lesions of the neck [19]. Sustained improvement in surface irregularities and distensibility of the cervical region was reported two years following treatment [19]. ...
... More recently, a case report described the use of a fractional CO2 laser on cutaneous lesions of the neck [19]. Sustained improvement in surface irregularities and distensibility of the cervical region was reported two years following treatment [19]. General management includes regular cardiovascular and ophthalmological screening examinations. ...
Pseudoxanthoma Elasticum (PXE) is a rare autosomal recessive disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, eyes, and cardiovascular system. PXE is caused by mutations in the ABCC6 gene but the specific pathophysiology of this condition remains unknown. We present a case of a patient who was diagnosed with PXE after experiencing vision loss following minor ocular trauma. Our patient had angioid streaks in her right eye, skin laxity of the bilateral dorsal hands, and yellow papules coalescing on the posterior neck. The diagnosis of PXE was confirmed by histopathological examination. PCR amplification of the patient's ABCC6 gene demonstrated a novel gene mutation that is believed to be pathogenic. Patients with PXE are at an increased risk of visual and potentially life-threatening cardiovascular complications. Early diagnosis provides the patient a greater chance of reducing associated morbidity and mortality.
... Possible postsurgery complications include slower wound healing and apparition of skin lesions in the scars [61][62][63] . Recently, Salles et al [64] described a PXE patient in which skin lesions in the neck were successfully treated with fractional carbon dioxide laser therapy. The post-laser reaction -redness, pain, swelling and crusting -was the same as seen in normal skin. ...
Ectopic mineralization - inappropriate biomineralization in soft tissues - is a frequent finding in physiological aging processes and several common disorders, which can be associated with significant morbidity and mortality. Further, pathologic mineralization is seen in several rare genetic disorders, which often present life-threatening phenotypes. These disorders are classified based on the mechanisms through which the mineralization occurs: metastatic or dystrophic calcification or ectopic ossification. Underlying mechanisms have been extensively studied, which resulted in several hypotheses regarding the etiology of mineralization in the extracellular matrix of soft tissue. These hypotheses include intracellular and extracellular mechanisms, such as the formation of matrix vesicles, aberrant osteogenic and chondrogenic signaling, apoptosis and oxidative stress. Though coherence between the different findings is not always clear, current insights have led to improvement of the diagnosis and management of ectopic mineralization patients, thus translating pathogenetic knowledge (variome) to the phenotype (phenome). In this review, we will focus on the clinical presentation, pathogenesis and management of primary genetic soft tissue mineralization disorders. As examples of dystrophic calcification disorders Pseudoxanthoma elasticum, Generalized arterial calcification of infancy, Keutel syndrome, Idiopathic basal ganglia calcification and Arterial calcification due to CD73 (NT5E) deficiency will be discussed. Hyperphosphatemic familial tumoral calcinosis will be reviewed as an example of mineralization disorders caused by metastatic calcification.
Pseudoxanthoma elasticum is a genetic metabolic disease which leads to ectopic mineralisation in the elastic tissues of the skin, eyes and blood vessels. The clinical signs are small yellow or normal skin‐coloured papules on the nape of the neck and lateral sides of the neck, as well as in flexural areas and periumbilical region. The skin becomes loose and wrinkled. The diagnosis on dark skin is particularly difficult. The dermatologist evokes the diagnosis and refers the patient to specialists in order to detect complications. We propose here a practical case study.
