Syndromes with skin fragility.

[Syndromes with skin fragility]. Hautarzt. 2019 Jun 13;: Authors: Reimer A, Has C Abstract Syndromic disorders with skin fragility belong to different groups of genodermatoses: epidermolysis bullosa (EB), Ehlers-Danlos syndrome and porphyria. The genetic defects mainly concern structural proteins which assure the mechanical stability of the skin and other tissues. Depending on the expression pattern of the affected protein in the skin, cutaneous fragility may manifest as superficial erosions, blisters, wounds, wound healing defects or scars. Extracutaneous manifestations are manifold and involve the heart, skeletal muscles, intestine, kidneys, blood vessels or the skeleton. Syndromic types of EB include in addition to skin blistering: (i) cardiomyopathy in case of desmoplakin, plakoglobin, or kelch-like protein mutations; (ii) muscular dystrophy in case of plektin mutations; (iii) pyloric atresia in case of integrin α6β4 or plectin mutations; (iv) nephrotic syndrome in case of CD151 or integrin α3 mutations. Lysyl hydroxylase 3 mutations affect posttranslational modifications of collagens and lead to a dystrophic epidermolysis bullosa-like multisystemic disorder. Ehlers-Danlos syndromes are due to defects of dermal collagens or their processing and affect the skin, joints and blood vessels. Finally porphyrias are complex metabolic disorders with photosensitivity and sometimes skin fragility, liver or neurologic problems. Th...
Source: Der Hautarzt: Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete - Category: Dermatology Tags: Hautarzt Source Type: research

Related Links:

CONCLUSION: Our findings suggest that GS may reduce the severity of DX-induced cardiotoxicity and thus has the potential to prevent cardiac injury in this setting. PMID: 31970462 [PubMed - as supplied by publisher]
Source: Herz - Category: Cardiology Tags: Herz Source Type: research
Publication date: February 2020Source: IJC Heart &Vasculature, Volume 26Author(s): Marthe A.J. Becker, Cornelis P. Allaart, Alwin Zweerink, Jan H. Cornel, Peter M. van de Ven, Albert C. van Rossum, Tjeerd GermansAbstractBackgroundSeptal midwall late gadolinium enhancement (LGE) on cardiac magnetic resonance imaging (CMR) is a characteristic finding in nonischemic dilated cardiomyopathy (DCM) and is associated with adverse cardiac events. QRS-prolongation in DCM is also frequently present and a predictor of arrhythmic events and mortality. Since the His-Purkinje fibres are located in the interventricular septum, QRS-pro...
Source: IJC Heart and Vasculature - Category: Cardiology Source Type: research
.
Source: Human Vaccines and Immunotherapeutics - Category: Allergy & Immunology Authors: Source Type: research
Authors: Peric S, Bjelica B, Bozovic I, Pesovic J, Paunic T, Banovic M, Brkusanin M, Aleksic K, Basta I, Pavicevic DS, Stojanovic VR Abstract Objectives: Cross-sectional studies reported fatigue in 50-90% of patients with myotonic dystrophy type 1 (DM1). The aim of this research was to assess frequency of fatigue in DM1 patients during a seven-year period. Materials and methods: Study included 64 DM1 patients at baseline (50% males, age 42 ± 12 years), and 38 after seven years. Following scales were used: Muscular Impairment Rating Scale (MIRS), Fatigue Severity Scale (FSS, score equal to or greater than...
Source: Acta Myologica - Category: Neurology Tags: Acta Myol Source Type: research
.
Source: Human Vaccines and Immunotherapeutics - Category: Allergy & Immunology Authors: Source Type: research
DISCUSSION: In Germany, posterior lamellar keratoplasty has become increasingly important. Since 2014, the number of lamellar keratoplasties has exceeded the number of penetrating keratoplasties. However, the number of penetrating keratoplasties remained stable between 2006 and 2017 and still plays an important role in the management of patients with predominantly stromal or corneal defects affecting all layers. The decreasing number of HLA-matched keratoplasties is most likely due to the lack of clear evidence of a significant reduction in the rejection rates in cases of normal risk keratoplasty. PMID: 31968370 [PubMe...
Source: Klinische Monatsblatter fur Augenheilkunde - Category: Opthalmology Tags: Klin Monbl Augenheilkd Source Type: research
We report an uncommon case of ventricular assist device-related infection and resultant fistula formation into the gastrointestinal tract. A 69-year-old man, who had undergone implantation of a HeartMate II 1  year earlier secondary to ischemic cardiomyopathy, presented to our hospital with a high fever. Computed tomography showed unusual gas collection around the heart apex (i.e., pneumopericardium), which had not been detected before. The patient developed sudden melena with fresh blood without abdomi nal symptoms 1 month after beginning antibiotic therapy. Emergent colonoscopy showed that the HeartMate II stra...
Source: Journal of Artificial Organs - Category: Transplant Surgery Source Type: research
eacute;lez Arcos-Holzinger Landires Arcos-Burgos Presented here are five members of a family that was ascertained from an isolated, consanguineous, indigenous Amerindian community in Colombia that was affected with calpain 3-related, limb-girdle muscular dystrophy type R1. These patients are homozygous for a unique and novel deletion of four bases (TGCC) in exon 3 of the calpain 3 gene (CAPN3) (NM_000070.2; NP_000061.1) (g.409_412del). The mutation site occurs at the CysPc protein domain, triggering a modified truncated protein structure and affecting motifs within the calpain-like thiol protease family (pepti...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research
ConclusionHemoglobin levels in PD seem to be closely related to noradrenergic nervous activity and nigrostriatal dopaminergic degeneration. In contrast to expectations, decreased hemoglobin levels were associated with increased whole-body sympathetic nervous activity in PD.
Source: Clinical Autonomic Research - Category: Research Source Type: research
Authors: Vučićević Boras V, Vidović Juras D, Aurer I, Bašić-Kinda S, Mikulić M Abstract A 40-year-old female patient was admitted to the Department of Oral Medicine due to oral ulcerations. Oral ulcerations were present on vestibular mucosa above teeth 21, 22, 25 and 26 and were 1 cm in diameter, and also around teeth 45 and 46. The patient had prolonged neutropenia due to therapy-related myelodysplastic syndrome that progressed to therapy-related acute myeloid leukemia. Initially, the patient was successfully treated with polychemotherapy for non-Hodgkin lymphoma. Unfortunately, many toxic complicatio...
Source: Acta Clinica Croatica - Category: General Medicine Tags: Acta Clin Croat Source Type: research
More News: Atresia | Brain | Cardiology | Cardiomyopathy | Dermatology | Ehlers-Danlos Syndrome | Epidermolysis Bullosa | Genetics | Heart | Liver | Muscular Dystrophy | Nephrotic Syndrome | Neurology | Porphyria | Reflex Sympathetic Dystrophy | Skin | Urology & Nephrology