Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Along with other organs like prostate, bones and kidney, skin is capable of vitamin D synthesis. Primarily keratinocytes but also macrophages and fibroblasts synthesize active vitamin D from cholesterol precursors by photochemical activation. The synthesized vitamin D functions by binding to nuclear vitamin D receptors. Vitamin D deficiency usually manifests as rickets in childhood although it is today only relevant in diseases characterized by malabsorption due to today's recommended vitamin D prophylaxis. Excessive doses of vitamin D are the usual cause of increased levels. The most common therapeutic target of Vitamin D is psoriasis. Here, topical preparations are usually employed; their anti-proliferative and cell differentiation-promoting action is mediated via binding to cutaneous vitamin D receptors.
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PMID:[Vitamin D and the skin]. 1868 85

Celiac disease (CD) is a chronic digestive disease that results in hypersensitivity to the gliadin fraction of Gluten. Malabsorption syndrome may be responsible for weight loss, diarrhea, osteomalacia, and vitamins deficiency. Herein we report a patient with coeliac disease (CD) who presented with osteomalacia and psoriasis without classical symptoms of CD. A 25-year-old North African Tunisian white woman was admitted to the hospital because of a 1-year history of bone pain, weight loss and weakness. She had cutaneous psoriasis on dermatologic examination. She had also anemia, hypocalcemia and pathological fracture. She was diagnosed to have osteomalacia on the basis of clinical, biological and radiological findings. Further investigations revealed the presence of antiglutaminase antibodies, and histopathologic findings of the duodenal biopsy were consistent with celiac disease. The patient showed a fast response to gluten-free diet, and full recovery with calcium and vitamin D replacement. Coeliac disease is frequently misdiagnosed leading to major complications such as osteolamacia. In the other hand, osteomalacia can still be the presenting feature of undiagnosed celiac disease. Association between osteomalacia and cutaneous psoriasis is rarely reported.
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PMID:Osteomalacia associated with cutaneous psoriasis as the presenting feature of coeliac disease: a case report. 2259 94

Almost one-third of patients with inflammatory bowel disease (IBD) develop skin lesions. Cutaneous disorders associated with IBD may be divided into 5 groups based on the nature of the association: specific manifestations (orofacial and metastatic IBD), reactive disorders (erythema nodosum, pyoderma gangrenosum, pyodermatitis-pyostomatitis vegetans, Sweet's syndrome and cutaneous polyarteritis nodosa), miscellaneous (epidermolysis bullosa acquisita, bullous pemphigoid, linear IgA bullous disease, squamous cell carcinoma-Bowen's disease, hidradenitis suppurativa, secondary amyloidosis and psoriasis), manifestations secondary to malnutrition and malabsorption (zinc, vitamins and iron deficiency), and manifestations secondary to drug therapy (salicylates, immunosupressors, biological agents, antibiotics and steroids). Treatment should be individualized and directed to treating the underlying IBD as well as the specific dermatologic condition. The aim of this review includes the description of clinical manifestations, course, work-up and, most importantly, management of these disorders, providing an assessment of the literature on the topic.
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PMID:Management of cutaneous disorders related to inflammatory bowel disease. 2471 96

For many patients with autoimmune hepatitis (AIH), the presence of extrahepatic features is well recognised both at the time of presentation and during long-term follow-up. Concomitant 'autoimmune disorders' have been described in 20-50% of patients with AIH, both in adults and children. Indeed, the presence of these associated phenomena has been incorporated into both the original and revised International AIH group scoring systems as an aid to codifying the diagnosis. In acute index presentations, non-specific joint pains sometimes flitting in nature have been reported in 10-60% of patients, and while joint swelling is uncommon, rheumatoid arthritis and mixed connective tissue disease have been reported in 2-4% of patients with AIH. For a majority of patients, these joint symptoms resolve within days of the introduction of immunosuppressive therapy. Rarer features at index presentation include a maculopapular skin rash and unexplained fever, which are features that tend to resolve quickly with treatment. Interestingly, joint pain and stiffness are also well recognised in the context of steroid withdrawal and cessation in AIH. The occasional co-presentation of AIH with coeliac disease is clinically important (1-6%), since for some patients, there is a risk of immunosuppression malabsorption, thus delaying effective treatment. Similarly, the co-existence of selective IgA deficiency (IgAD) can occur in patients with coeliac disease or in isolation. Selective IgAD as a co-existing extraheaptic feature seems to be more common in paediatric patients with AIH. For these patients, they are at an increased risk of respiratory and sinus infections. Although, typically associated with primary sclerosing cholangitis, the presence of inflammatory bowel disease (IBD; both Crohn's disease and ulcerative colitis) has been described in 2-8% of patients with AIH. Interestingly, for patients with autoimmune sclerosing cholangitis, a distinct pattern of IBD has been recently described. Other conditions have been reported at a lower frequency, including Sjogren's syndrome 1-7%, systemic lupus erythematosus 1-3% and glomerulonephritis 1%. Rarer still and at a frequency of <1% include fibrosing alveolitis, haemolytic anaemia, uveitis, mononeuritis multiplex, polymyositis and multiple sclerosis. In contrast, the reported associations between AIH and thyroiditis 8-23%, diabetes 1-10% and psoriasis 3% are commonly seen and notable in clinical practice.
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PMID:Association of Extrahepatic Manifestations with Autoimmune Hepatitis. 2664 98


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