Lena Dunham says she has Ehlers-Danlos syndrome. Here's what it is

Responding to a paparazzi photo that captured her walking with her cane, Lena Dunham explained she has Ehlers-Danlos syndrome -- a group of disorders affecting the joints and skin.
Source: CNN.com - Health - Category: Consumer Health News Source Type: news

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AbstractA unique case of a patient with Ehlers ‐Danlos type IV syndrome was referred with aortic root aneurysm and previous cosmetic primary repair of pectus excavatum (PE) through a solid silicone onlay prosthesis. The patient underwent successful removal of the silicone prosthesis and one‐stage ascending aortic root replacement with concom itant Nuss procedure for repair of the PE.
Source: Journal of Cardiac Surgery - Category: Cardiovascular & Thoracic Surgery Authors: Tags: CASE REPORT Source Type: research
We report extensive functional studies of 16 C1R variants associated with pEDS by in-vitro overexpression studies in HEK293T cells followed by western blot, size exclusion chromatography and surface plasmon resonance analyses. Patient-derived skin fibroblasts were analyzed by western blot and Enzyme-linked Immunosorbent Assay (ELISA). Overexpression of C1R variants in HEK293T cells revealed that none of the pEDS variants was integrated into the C1 complex but cause extracellular presence of catalytic C1r/C1s activities. Variants showed domain-specific abnormalities of intracellular processing and secretion with preservatio...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
AbstractIn this paper, we describe the case of a 29-year-old Caucasian male who was reported dead in his home. In 2010, a diagnosis of acrogeria, Gottron type was obtained by genetic analysis of a COL3A1 gene mutation. External examination showed typical characteristics of acrogeria, Gottron type. Autopsy showed a full-thickness laceration in the inferior vena cava wall, which caused hemorrhage and death. Samples of inferior vena cava were processed by Masson trichrome staining, which revealed a reduction in vessel wall thickness and a decrease in the amount of elastic fibers. An antibody reaction with BCL-2 was intensely ...
Source: Forensic Science, Medicine, and Pathology - Category: Forensic Medicine Source Type: research
arina Colombi The Ehlers-Danlos syndromes (EDS) constitute a clinically and genetically heterogeneous group of connective tissue disorders. Tenascin X (TNX) deficiency is a rare type of EDS, defined as classical-like EDS (clEDS), since it phenotypically resembles the classical form of EDS, though lacking atrophic scarring. Although most patients display a well-defined phenotype, the diagnosis of TNX-deficiency is often delayed or overlooked. Here, we described an additional patient with clEDS due to a homozygous null-mutation in the TNXB gene. A review of the literature was performed, summarizing the most important and...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research
CONCLUSIONS: Osteogenesis imperfecta patients with haploinsufficient mutations had higher percentage of anisotropic collagen fibers alignment compared to other patient groups; all patients had a lower percentage of anisotropic samples compared to healthy controls. This correlated with higher average stiffness in the control group. Glycosaminoglycan content was lower in the control and haploinsufficient groups. In cells with PLOD1 mutations, there were no differences in PLOD2 expression. This proof of concept study was able to show differences in collagen fiber orientation between different patient groups which can potentia...
Source: Biochemical and Biophysical Research communications - Category: Biochemistry Authors: Tags: Biochem Biophys Res Commun Source Type: research
In this study we provide clinical and molecular presentation of two new patients with DSE related mcEDS. Analysing clinical exome data, a homozygous pathogenic DSE variant, c.1150_1157del p.(Pro384Trpfs*9), was identified in a 32 year old man with bilateral congenital talipes equinovarus, characteristic facial features, myopia, hyperextensible skin at the elbows, significant palmar wrinkling, bilateral inguinal hernias and chronic leg, back and joint pain. Electron microscopical examination of skin biopsy showed changes consistent with mild compensatory elastic fibre hypertrophy and mildly loose collagen bundles. The varia...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
Condition:   Ehlers-Danlos Syndrome Intervention:   Sponsor:   Luca Sangiorgi Enrolling by invitation
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Australian singer/songwriter Sia (born Sia Kate Isobelle Furler), 43, is known for wearing elaborate wigs and headpieces that hide her face. However, the“Chandelier” singer is not hiding the fact that she was recently diagnosed with the connective tissue disorder Ehlers-Danlos syndrome. In a  tweet, Sia wrote:“Hey, I’m suffering with chronic pain, a neurological disease, […]Find jobs at  Careers by KevinMD.com.  Search thousands of physician, PA, NP, and CRNA jobs now.  Learn more.
Source: Kevin, M.D. - Medical Weblog - Category: General Medicine Authors: Tags: Conditions Rheumatology Source Type: blogs
The objective of the study was to compare the acromiohumeral distance (AHD) between patients diagnosed with hypermobility type of the Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorder (HSD) and healthy controls by evaluating the relative amount the tendon occupies in the subacromial area. Furthermore, the aim was to evaluate if there was a change in AHD with arm elevation within and between groups.
Source: Journal of Shoulder and Elbow Surgery - Category: Orthopaedics Authors: Source Type: research
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