- A man with easy bruising, heart failure, and organomegaly. [Journal Article]
- IJInt J Dermatol 2018 May 17
- Exploration of Patient Characteristics and Quality of Life in Patients with Lipoedema Using a Survey. [Journal Article]
- DTDermatol Ther (Heidelb) 2018 May 10
- CONCLUSIONS: Lipoedema patients often have severe complaints and experience lower quality of life regarding physical, emotional and social functioning. Additionally, comorbidities have a large impact on quality of life.
- Vascular aspects of the Ehlers-Danlos Syndromes. [Review]
- MBMatrix Biol 2018 Apr 27
- The Ehlers-Danlos Syndromes comprise a heterogeneous group of rare monogenic conditions that are characterized by joint hypermobility, skin and vascular fragility and generalized connective tissue fr...
The Ehlers-Danlos Syndromes comprise a heterogeneous group of rare monogenic conditions that are characterized by joint hypermobility, skin and vascular fragility and generalized connective tissue friability. The latest classification recognizes 13 clinical subtypes, with mutations identified in 19 different genes. Besides defects in fibrillar collagens (collagen types I, III and V), their modifying enzymes (ADAMTS-2, lysylhydroxylase 1 (LH1)), and molecules involved in collagen folding (FKBP22), defects have recently been identified in other constituents of the extracellular matrix (e.g. Tenascin-X, collagen type XII), enzymes involved in glycosaminoglycan biosynthesis (β4GalT7 and β3GalT6), dermatan 4-O-sulfotransferase-1 (D4ST1), dermatan sulfate epimerase (DSE)), (putative) transcription factors (ZNF469, PRDM5), components of the complement pathway (C1r, C1s) and an intracellular Zinc transporter (ZIP13). Easy bruising is, to a variable degree, present in all subtypes of EDS. A variable bleeding tendency, manifesting e.g. as gum bleeding, menometrorraghia, postnatal or peri-operative hemorrhage is observed in many EDS-patients of varying EDS subtypes. Life-threatening arterial aneurysms, dissections and ruptures of medium-sized and large arteries are a hallmark of the vascular subtype of EDS, caused by a molecular defect in collagen type III, an important constituent of blood vessel walls and hollow organs. They may however also occur in other EDS subtypes, especially in classical EDS, caused by defects in type V collagen or, rarely, type I collagen, and in kyphoscoliotic EDS, caused by defects in LH1 or FKBP22. These manifestations of vascular fragility and bleeding are usually attributed to fragility of the blood vessel walls and the perivascular connective tissues, but the molecular pathomechanisms underlying these complications are poorly studied. This review summarizes current knowledge on manifestations of vascular fragility in the different EDS subtypes.
- Do the diagnostic criteria for subclinical hypercortisolism exist? [Journal Article]
- AEAnn Endocrinol (Paris) 2018; 79(3):146-148
- "Subclinical hypercortisolism" (SH) refers to a condition associated with a mild chronic increase in cortisol secretion. By definition, patients with SH do not exhibit specific symptoms of overt Cush...
"Subclinical hypercortisolism" (SH) refers to a condition associated with a mild chronic increase in cortisol secretion. By definition, patients with SH do not exhibit specific symptoms of overt Cushing's syndrome (such as purple striae, easy bruising, proximal muscle weakness), SH has been preferred to "subclinical Cushing's syndrome", a semantic ambiguity since Cushing's syndrome is, by definition, a set of symptoms; and to the term "preclinical Cushing syndrome" because the progression toward overt clinical hypercortisolism is very rare. However, SH still is misnomer as a number of studies suggest that this condition may induce long-term non-specific adverse conditions related to the mild cortisol excess (i.e. diabetes, hypertension, obesity, and osteoporosis). Various attempts have been made to define SH that remains a matter of controversies and uncertainties.
- Suspicious scars: physical child abuse vs Ehlers-Danlos syndrome. [Journal Article]
- ACAutops Case Rep 2018 Jan-Mar; 8(1):e2018008
- Child abuse is a sensitive topic among many medical practitioners and the diagnosis of this entity requires awareness about conditions which can mimic physical child abuse. Here, the authors present ...
Child abuse is a sensitive topic among many medical practitioners and the diagnosis of this entity requires awareness about conditions which can mimic physical child abuse. Here, the authors present a case of a 13-year-old school non-attendee who was referred due to multiple scars, over areas prone to accidental as well as non-accidental injury, who underwent medicolegal examination due to suspicion of physical child abuse. On further inquiry, it was discovered that she had easy bruising and poor wound healing. A diagnosis of Ehlers-Danlos syndrome was established and physical child abuse was excluded. This case emphasizes the importance of identifying conditions which may confound the diagnosis of physical child abuse. This is of utmost importance in avoiding adverse legal and psycho-social implications on the child, family and society.
- GeneReviews® [BOOK]
- BOOKUniversity of Washington, Seattle: Seattle (WA)
- Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinat...
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
- Telangiectatic Matting is Associated with Hypersensitivity and a Bleeding Tendency. [Journal Article]
- EJEur J Vasc Endovasc Surg 2018; 55(4):554-559
- CONCLUSIONS: TM is associated with both hypersensitivity and a bleeding tendency. This study revealed no significant increase in the incidence of haemostatic abnormalities in patients with TM compared with the control group. Given the significant association with hypersensitivity disorders, the underlying mast cell hyper-reactivity may contribute to both hypersensitivity and a bleeding tendency and predispose patients to TM.
- A Pilot Study Evaluating the Efficacy and Safety of ARTISS Human Fibrin Sealant in External Rhinoplasty. [Journal Article]
- APAesthetic Plast Surg 2018; 42(2):590-597
- CONCLUSIONS: The use of ARTISS fibrin sealant in external rhinoplasties is a safe and easy method and may enhance patient self-esteem. Larger studies are warranted to either verify or challenge the validity of our findings.
- The Impact of Skin Problems on the Quality of Life in Patients Treated with Anticancer Agents: A Cross-Sectional Study. [Journal Article]
- CRCancer Res Treat 2017 Dec 14
- CONCLUSIONS: We believe our findings can be helpful to clinicians in counseling and managing the patients undergoing anticancer therapy.
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- Case report: Ectopic Cushing's syndrome in a young male with hidden lung carcinoid tumor. [Journal Article]
- IJInt J Surg Case Rep 2018; 42:13-16
- CONCLUSIONS: The diagnosis was made by non-invasive radiological procedures (CT scan and MRI) and serological tests. The management consisted of medical treatment which was not useful, then bilateral adrenalectomy to limit the patient symptoms. The ectopic spot was finally detected and excised surgically through thoracotomy. After six months of follow up there was no recurrence, signs and symptoms of Cushing syndrome begin to disappear.Ectopic cushing syndrome is a complicated medical problem especially when it comes to identification of the ectopic spot. The surgical treatment could be curative when the spot is determined.