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Recent advances in the workup and management of Raynaud phenomenon.
Lis-Święty, A
Polish archives of internal medicine. 2019;(11):798-808
Abstract
Raynaud phenomenon (RP) is defined as recurrent, reversible episodes of vasospasm involving peripheral small vessels, typically in the fingers and toes. Primary (idiopathic) RP is common (it occurrs in about 5% of the general population) and is usually benign. Secondary RP accounts for 10% to 20% of all RP cases and may be associated with complications such as tissue loss, ulcers, and gangrene. Systemic sclerosis (SSc) or, more rarely, other connective tissue diseases are the main underlying conditions. A detailed clinical history and careful physical examination may be helpful in identifying the cause. Routine investigations include a full blood count, measurement of erythrocyte sedimentation rate, C‑reactive protein, antinuclear antibody levels, biochemical profile, thyroid function tests, protein electrophoresis, chest X‑ray, and nailfold capillaroscopy. Capillaroscopy can facilitate a very early diagnosis of SSc. Doppler ultrasound is recommended to evaluate the risk of pathologies in large to medium-sized arteries. Lifestyle modifications may be sufficient to control primary RP, but some patients, and most with secondary RP, require pharmacologic treatment. Several medications are proposed to manage RP and its complications, such as calcium channel blockers, phosphodiesterase type 5 inhibitors, intravenous prostanoids, and topical nitrates. However, scientific evidence for the use of these drugs is still weak to moderate. Despite the lack of efficacy of bosentan in RP treatment, this medication is approved for the secondary prevention of digital ulcers in patients with SSc. In conclusion, the management of RP still represents a challenge. Collaboration between healthcare professionals, patient organizations, and the society could encourage earlier medical assessment of people at risk of SSc.
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The role of the dermatologist in Raynaud's phenomenon: a clinical challenge.
Matucci-Cerinic, C, Nagaraja, V, Prignano, F, Kahaleh, B, Bellando-Randone, S
Journal of the European Academy of Dermatology and Venereology : JEADV. 2018;(7):1120-1127
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Abstract
Raynaud's phenomenon (RP) is a functional vascular disorder involving extremities. In his practice, the dermatologist may frequently encounter RP which affects mainly women and is categorized into a primary benign form and a secondary form associated with different diseases (infections, drugs, autoimmune and vascular conditions, haematologic, rheumatologic and endocrinologic disorders). Still today, the differential diagnosis is a clinical challenge. Therefore, a careful history and a physical examination, together with laboratory tests and nailfold capillaroscopy, is mandatory. RP is generally benign, but a scheduled follow-up for primary RP patients should be established, due to risk of evolution to secondary RP. A combination of conservative measures and medications can help in the management of RP. The importance of avoiding all potential physical, chemical and emotional triggers, as well as quitting smoking, should be strongly suggested to the patient. As first-line treatment, dihydropyridine calcium channel blockers should be used. If this approach is not sufficient, prostacyclin derivatives, phosphodiesterases inhibitors and endothelin receptor antagonists can be considered as second-line treatment. In cases of acute ischaemia, nifedipine and intravenous prostanoids are helpful. In refractory cases, botulinum injections have shown a significant benefit. The approach to the RP patients requires therefore a coordinated care of specialists together with the primary care physician.
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An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature.
Trippella, G, Lionetti, P, Naldini, S, Peluso, F, Monica, MD, Stagi, S
Italian journal of pediatrics. 2018;(1):138
Abstract
BACKGROUND Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant disorder caused by defects involving the TRPS1 gene. It exhibits distinctive craniofacial, ectodermal and skeletal abnormalities, such as sparse hair, bulbous nasal tip and short deformed fingers, with extremely variable expressivity. CASE PRESENTATION We report the case of a 17 months old girl, who presented growth retardation and dysmorphic features. Postnatal growth was always below - 2 Standard Deviation for both weight and length and physical examination revealed relative macrocephaly, sparse hair, bulbous nasal tip, thin upper lip, protruding ears, prominent forehead, small jaw, and short hands and feet. Patient's mother shared the same facial features, and presented sparse hair and small hands. The maternal grandfather and two uncles presented short stature, bulbous nasal tip, thin hair, and premature alopecia. Molecular analysis of TRPS1 gene showed a heterozygous c.2086C > T;(p.Arg696Ter) mutation both in the patient and her mother, confirming the diagnosis of TRPS, type I. CONCLUSIONS Clinical phenotype of TRPS can be subtle and the syndrome often remains undiagnosed. A comprehensive clinical examination and an exhaustive family history are crucial to reach the correct diagnosis, which is essential to perform adequate follow-up and timely therapeutic procedures.
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[Not Available].
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Annales de dermatologie et de venereologie. 2018;:S159-S164
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Raynaud's phenomenon and digital ischaemia--pharmacologic approach and alternative treatment options.
Linnemann, B, Erbe, M
VASA. Zeitschrift fur Gefasskrankheiten. 2016;(3):201-12
Abstract
The primary goal of therapy is to reduce the frequency and intensity of Raynaud's attacks and to minimize the related morbidity rather than to cure the underlying condition. Treatment strategies depend on whether Raynaud's phenomenon (RP) is primary or secondary. All patients should be instructed about general measures to maintain body warmth and to avoid triggers of RP attacks. Pharmacologic intervention can be useful for patients with severe and frequent RP episodes that impair the patient's quality of life. Calcium channel blockers are currently the most prescribed and studied medications for this purpose. There has been limited evidence for the efficacy of alpha-1-adrenergic receptor antagonists, angiotensin receptor blockers, topical nitrates or fluoxetine to treat RP. The intravenously administered prostacyclin analogue iloprost can reduce the frequency and severity of RP attacks and is considered a second-line therapy in patients with markedly impaired quality of life, critical digital ischaemia and skin ulcers who are at risk for substantial tissue loss and amputation. Phosphodiesterase inhibitors (e.g., sildenafil) can also improve RP symptoms and ulcer healing whereas endothelin-1 receptor antagonists (e.g., bosentan) are mainly considered treatment options in secondary prevention for patients with digital skin ulcers related to systemic sclerosis. However, their use in clinical practice has been limited by their high cost. Antiplatelet therapy with low-dose aspirin is recommended for all patients who suffer from secondary RP due to ischaemia caused by structural vessel damage. Anticoagulant therapy can be considered during the acute phase of digital ischaemia in patients with suspected vascular occlusive disease attributed to the occurrence of new thromboses. In patients with critical digital ischaemia, consideration should be given to hospitalisation, optimisation of medical treatment in accordance with the underlying disease and evaluation for a secondary, possibly reversible process that is causing or aggravating the clinical symptoms.
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Thyroid dermopathy and acropachy.
Fatourechi, V
Best practice & research. Clinical endocrinology & metabolism. 2012;(4):553-65
Abstract
Graves' disease is an autoimmune condition commonly associated with thyroid dysfunction and with anti-thyroid antibodies, usually TSH receptor stimulating antibodies. Thyroid autoimmunity also may be associated with extra thyroidal manifestations. Most common extra thyroidal manifestation is ophthalmopathy. Less common is thyroid dermopathy, usually occurring in pretibial area. Dermopathy is almost always associated with ophthalmopathy and in severe cases with acropachy. A common antigen with thyroid in tissues of the skin and the eyes, most likely TSH receptor, is involved in pathogenesis of extra thyroidal manifestations. Presence of dermopathy and acropachy are predictors of severity of autoimmune process. Local corticosteroid application is the standard therapy for dermopathy. Response to therapy is good in mild cases and poor in severe cases. Immune modulators and biotherapies are undergoing randomized trials for ophthalmopathy component of Graves' disease. Any therapy proven to be effective for ophthalmopathy can be utilized in future for management of dermopathy.
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Fast determination of fatty acids in whole blood collected from fingertips: application to the assessment of fatty acid patterns (and various indexes) in population studies.
Galli, C, Risé, P, Ghezzi, S, Marangoni, F
World review of nutrition and dietetics. 2009;:35-45
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Upper gastrointestinal malformations in Coffin-Siris syndrome.
Kellermayer, R, Kitagawa, S, Redel, CA, Cass, DL, Belmont, JW, Klish, W
American journal of medical genetics. Part A. 2007;(13):1519-21
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[Acrocyanosis: changing concepts and nosological limitations].
Planchon, B, Becker, F, Carpentier, PH, Lazareth, I, Le Dévéhat, C, Lévesque, H, Péréon, Y, Pistorius, MA, Vayssairat, M, ,
Journal des maladies vasculaires. 2001;(1):5-15
Abstract
Acrocyanosis is undoubtedly the most commonplace acrosyndrome, both in terms of pathogenesis and prognosis. Patients experience functional impairment and an esthetic prejudice that must not be neglected. Adopting the nosological classifications described for Raynaud's syndrome, primary acrocyanosis must be distinguished from exceptional secondary phenomena that have a radically different clinical course. Primary acrocyanosis is generally observed in a young woman who appears thin or has recently lost weight. No paroxysmal episode (syncope, cyanosis, suspicious event involving the fingers) is found. The physical examination is negative and no complementary explorations are needed. Current pathophysiological hypotheses remain insufficient but suggest that vasospasticity rather than hemorheology is involved. The hypothesis that a thermoregulation disorder could be associated with weight loss deserves further study. Symptomatic care relies on dietary and hygiene counseling, emphasizing the importance of warm clothing. The psychological element must also be considered even in the most common forms.