Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 76-year-old woman presented with a pruritic photodistributed rash and dysphagia. Serum anti-nuclear antibody was positive (titre 1/1280) and skin and muscle biopsies confirmed a diagnosis of dermatomyositis. She was treated with oral prednisolone (5-50 mg/day), mometasone furoate 0.1% ointment and lotion, and tacrolimus 0.03% ointment. Four years later she presented with multiple painful scaly erosions on the face, scalp and trunk. Histopathology and direct and indirect immunofluorescence confirmed a diagnosis of pemphigus vulgaris. Repeated malignancy screens were negative. She was treated with methotrexate (10 mg/week) and prednisolone (50 mg/day slowly tapered to 5 mg/day), with good control of both diseases.
Australas J Dermatol 2011 May
PMID:Dermatomyositis and pemphigus vulgaris: association or coincidence? 2160 86

Epidermolysis bullosa acquisita (EBA) is a chronic, autoimmune condition involving the skin and mucous membranes. Symptomatic mucosal involvement is rare, but can impact on quality of life, due to esophageal strictures and dysphagia. We report a case involving a 60-year-old male presenting with bullous skin lesions on areas of friction on his hands, feet and mouth. Milia were visible on some healed areas. Biopsy showed a subepidermal vesicle. Direct immunofluorescence showed intense linear junctional IgG and C3 at the dermo-epidermal junction. Serological tests also supported the diagnosis of EBA. Screening tests for underlying malignancies were negative. Despite treatment with systemic steroids, the patient developed increasing dysphagia, requiring further investigation with esophagoscopy and a barium swallow. Confirmation of extensive esophageal stricturing prompted adjustment of medications including an increase in systemic steroids and addition of azathioprine. Currently, the patient's disease remains under control, with improvement in all his symptoms and return of anti-basement membrane antibody levels to normal, whilst he remains on azathioprine 150 mg daily and prednisolone 5 mg daily. This case highlights the fact that the treatment of a given patient with EBA depends on severity of disease and co-morbid symptoms. Newer immunoglobulin and biological therapies have shown promise in treatment resistant disease. Considering that long-term immunosuppressants or biologicals will be required, potential side effects of the drugs should be considered. If further deterioration occurs in this patient, cyclosporin A or intravenous immunoglobulin (IV Ig) will be considered. Vigilance for associated co-morbidities, especially malignancies, should always be maintained.
Indian J Dermatol 2011 Mar
PMID:Epidermolysis bullosa acquisita with moderately severe Dysphagia due to esophageal strictures. 2171 57

Although periorbital edema is a common manifestation of dermatomyositis (DM), generalized subcutaneous edema associated with DM is extremely rare. Evans syndrome is an autoimmune disease in which an individual's antibodies attack one's own red blood cells and platelets. Evans syndrome is rarely a presenting feature of DM. DM has been rarely reported to be associated with either generalized edema or Evans syndrome. We report the case of a 52-year-old Korean woman who presented with generalized subcutaneous edema, an erythematous rash, dysphagia, and proximal muscle weakness, and subsequently developed features of Evans syndrome. Treatment with high-dose glucocorticoids and an immunosuppressive agent controlled the DM, the generalized subcutaneous edema, and the Evans syndrome.
J Am Acad Dermatol 2012 Jan
PMID:Dermatomyositis associated with generalized subcutaneous edema and Evans syndrome. 2203 16

Kindler syndrome is a rare autosomal recessive genodermatosis characterized by trauma-induced acral blisters in infancy and childhood, photosensitivity, and progressive poikiloderma. Other clinical features include chronic erosive gingivitis, dysphagia, esophageal and urethral strictures, ectropion, and an increased risk of mucocutaneous squamous cell carcinoma. We describe a patient with Kindler syndrome associated with squamous cell carcinoma of the skin and larynx. He had squamous cell carcinoma on his left knee with simultaneous unresectable laryngeal carcinoma at the age of 43 years. The squamous cell carcinoma on his knee was excised and the laryngeal carcinoma was treated with radiation therapy. Although pathophysiology of Kindler syndrome and its frequency of association with cancer are still not fully elucidated, we speculate that long-term erosion and regeneration of mucosal and cutaneous surfaces may have induced squamous cell carcinoma on the patient's knee and larynx.
Case Rep Dermatol 2012 May
PMID:Cutaneous and laryngeal squamous cell carcinoma in mixed epidermolysis bullosa, kindler syndrome. 2280 96

Polymyositis (PM) is one of the inflammatory myopathies, disorders characterized pathologically by the presence of inflammatory infiltrates in striated muscle. The principal clinical manifestation of PM is proximal muscle weakness. The cause of PM is unknown, but current evidence suggests that it is an autoimmune disorder. PM can affect people of any age, but most commonly presents between the ages of 50 to 70. PM is rarely seen in people younger than 18 years of age, and is twice as common among females than males. PM is more common in blacks than in whites. The overall prevalence of PM is 1 per 100,000. Muscle weakness may develop suddenly or more insidiously over a period of weeks to months. The classic symptom of PM is proximal weakness, which may manifest as difficulty holding the arms over the head, climbing stairs, or rising from a chair. Weakness of the striated muscle of the upper esophagus may result in dysphagia, dysphonia, and aspiration. The chest wall muscles may be affected, leading to ventilatory compromises. Involvement of cardiac muscle may lead to arrhythmias and congestive heart failure. Dermatomyositis (DM) is closely related to PM, and both are distinguished primarily by the occurrence of characteristic skin abnormalities in the former. PM and DM may be associated with a variety of malignancies. PM may also occur as part of the spectrum of other rheumatic diseases like systemic lupus erythematosus and mixed connective tissue disease. Moreover, inflammatory myopathy may be caused by some drugs (procainamide, D-penicillamine), and viruses, most notably the retroviruses. Corticosteroids and immunosuppressive agents are the mainstays of therapy for PM. The principal goals of therapy are to improve strength and improve physical functioning. Many patients require treatment for several years. The 5-year survival rate for treated patients is in the order of 95%. Up to one-third of PM patients may be left with some degree of residual muscle weakness.
Indian J Dermatol 2012 Sep
PMID:Evaluation and management of polymyositis. 2311 57

Dermatomyositis (DM) is a chronic inflammatory disorder of the skin and muscles. Evidence supports that DM is an immune-mediated disease and 50-70% of patients have circulating myositis-specific auto-antibodies. Gene expression microarrays have demonstrated upregulation of interferon signaling in the muscle, blood, and skin of DM patients. Patients with classic DM typically present with symmetric, proximal muscle weakness, and skin lesions that demonstrate interface dermatitis on histopathology. Evaluation for muscle inflammation can include muscle enzymes, electromyogram, magnetic resonance imaging, and/or muscle biopsy. Classic skin manifestations of DM include the heliotrope rash, Gottron's papules, Gottron's sign, the V-sign, and shawl sign. Additional cutaneous lesions frequently observed in DM patients include periungual telangiectasias, cuticular overgrowth, "mechanic's hands", palmar papules overlying joint creases, poikiloderma, and calcinosis. Clinically amyopathic DM is a term used to describe patients who have classic cutaneous manifestations for more than 6 months, but no muscle weakness or elevation in muscle enzymes. Interstitial lung disease can affect 35-40% of patients with inflammatory myopathies and is often associated with the presence of an antisynthetase antibody. Other clinical manifestations that can occur in patients with DM include dysphagia, dysphonia, myalgias, Raynaud phenomenon, fevers, weight loss, fatigue, and a nonerosive inflammatory polyarthritis. Patients with DM have a three to eight times increased risk for developing an associated malignancy compared with the general population, and therefore all patients with DM should be evaluated at the time of diagnosis for the presence of an associated malignancy. This review summarizes the immunopathogenesis, clinical manifestations, and evaluation of patients with DM.
Indian J Dermatol 2012 Sep
PMID:Clinical presentation and evaluation of dermatomyositis. 2311 58

Scleromyxedema (SM) is a sclerotic variant of lichen or papular mucinosis in which lichenoid papules and scleroderma-like features are both present. It is a rare deposition disorder characterized by generalized papular and sclerodermoid eruptions, mucin deposition, increased fibroblast proliferation, fibrosis, and monoclonal gammopathy (also known as paraproteinemia) mainly of the immunoglobulin G-lambda type in the absence of thyroid disease. It usually affects middle-aged adults and shows no gender or racial predilection. In addition to the skin findings and paraproteinemia, patients with SM have variable multisystem affections that mimic systemic sclerosis; the systems which are commonly involved include the gastrointestinal tract, musculoskeletal, pulmonary, cardiovascular, renal, and central nervous systems, leading to significant morbidity and mortality. Prominent symptoms include dysphagia, proximal muscle weakness, and dyspnea on exertion; less common but important findings include central nervous system involvement in the form of encephalopathy, convulsions, coma, and psychosis.
Case Rep Dermatol 2013 May
PMID:Scleromyxedema: a case report and review of the literature. 2387 93

A 62-year-old man with weight loss and dysphagia developed 3 cutaneous nodules. Fine needle aspirate of one of the nodules identified squamous cell carcinoma, which was found to be a metastasis from esophageal cancer.
Dermatol Online J 2013 May 15
PMID:Multiple cutaneous nodules presenting as metastatic squamous cell carcinoma of the esophagus. 2401 Dec 73

Human papillomavirus (HPV)-related head and neck malignancies (HNMs) have become a serious health risk over the past 20 years. Despite decreases in non-HPV-related HNMs, the incidence of HPV-related HNMs has skyrocketed, and a new form of tumorigenesis is developing. HPV type 16 is the primary offender, and the majority of these tumors present in the oropharynx, with a smaller proportion in the larynx and oral cavity. While traditionally treated with surgery, the paradigm has shifted to more of a nonoperative chemoradiation therapy approach, with the hope of improving vital functions after therapy. Unfortunately, we continue to see significant dysphagia in these patients after treatment, and work is being done to improve outcomes. With the advent of transoral robotic surgery, we have again been able to reconsider treatment options for these patients, although it has been met with some skepticism and resistance. Here we discuss the scope of HPV-related HNMs, the treatment options and prognosis for the disease, and finally touch upon psychosocial issues related to HPV-related HNMs.
Curr Probl Dermatol 2014
PMID:Management of human papillomavirus-related head and neck cancer. 2464 91

The association between idiopathic inflammatory myopathy (IIM) and cancer has been extensively studied in adults. Many epidemiological studies demonstrated this association, which appears stronger for dermatomyositis (DM) than for polymyositis (PM). The first case suggesting an association between cancer and DM was reported in 1916. At present the reported incidence of cancer association with DM varies widely, from less than 7% to over 30%. Many early evidences came from case reports, but this association was later confirmed in case-control as well as in population-based studies. Ovarian cancer or breast cancer in females and lung cancer in males are the main malignancies associated with DM. Given the frequency of the association of dermatomyositis with cancer, for cost-effectiveness reasons it might be important to develop simple and appropriate diagnostic tests for identification of patients with DM, who may be at higher risk of developing a malignancy. Clinicians should plan follow-up schedules to optimize both cancer detection and treatment, and thus to improve patient survival. Many different clinical and serological signs have been suggested as possible predictive factors for malignancy in dermatomyositis: age, increased erythrocyte sedimentation rate (ESR), presence of cutaneous leukocytoclastic vasculitis, cutaneous rash and skin lesions as cutaneous necrosis and periungueal erythemas, neoplastic markers or dysphagia. The results of the different studies are quite discordant. Therefore, we conducted a systematic review of the scientific literature to evaluate the level of the risk of cancer in patients with dermatomyositis and to explore whether certain patient characteristics may be linked to different levels of cancer risk.
G Ital Dermatol Venereol 2014 Oct
PMID:Cancer risk in dermatomyositis: a systematic review of the literature. 2497 53


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