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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Acrodermatitis enteropathica is a rare inherited disorder characterized by zinc deficiency and a triad of dermatitis, diarrhea, and alopecia. It is an autosomal recessive condition thought to be due to the inability to absorb zinc from the gastrointestinal tract. Acquired zinc deficiency due to a variety of etiologies may produce a similar clinical picture. These causes include inadequate supply, malabsorption, and low zinc stores. In addition to zinc, deficiencies of other nutrients such as branched chain amino acids have induced an acrodermatitis enteropathica-like eruption. We describe a case of a 26-month-old boy with a rare inborn error of metabolism known as nonketotic hyperglycinemia who developed an acrodermatitis enteropathica-like eruption. In addition to zinc deficiency, the patient was deficient in branched chain amino acids due to a low protein diet instituted to reduce his elevated glycine levels. The rash did not respond to zinc replacement alone, and therefore is most likely a combination of amino acid and zinc deficiency. Acrodermatitis enteropathica-like eruptions have been described in other conditions that cause decreased serum amino acids, such as maple syrup urine disease and organic acidurias. This is the first case describing an association between acrodermatitis enteropathica and nonketotic hyperglycinemia.
J Dermatol 2000 Sep
PMID:Acrodermatitis enteropathica-like eruption in an infant with nonketotic hyperglycinemia. 1105 37

A 49-year-old man presented with neurosis, hyperpigmentation of the skin, and depigmentation of the hair. On examination, hyperpigmentation was observed on the oral mucosa and the skin of the forearms, elbows, palmar creases and periunguinal area, knees, and feet. He had megaloblastic anemia with a low serum level of vitamin B12 due to malabsorption resulting from a gastrectomy 10 years previously. His hyperpigmentation was resolved with vitamin B12 supplementation. Histology showed an increase of melanin in the basal layer. In electron microscopic study, many melanosomes were observed in melanocytes and surrounding keratinocytes. We consider that the dominant mechanism of hyperpigmentation due to vitamin B12 deficiency is not a defect in melanin transport but is rather an increase in melanin synthesis.
J Dermatol 2001 May
PMID:Generalized hyperpigmentation of the skin due to vitamin B12 deficiency. 1143 69

Systemic sclerosis is an extremely variable disease in its manifestations and consequently, treatment needs to be individualized depending on the specific problems that each patient has. Limited scleroderma patients have a prolonged duration of Raynaud's phenomenon and puffy fingers before they develop any skin thickening, digital ulcers or gastrointestinal symptoms. They are likely to present with all the classic manifestations of scleroderma. Diffuse scleroderma patients have a much more acute systemic onset with marked whole hand swelling and may initially have only subtle skin thickening. A good understanding of the differences between the natural history of limited and diffuse scleroderma will enable the physician to treat present problems and anticipate future ones more effectively. One should determine which major subset and organ systems are involved before deciding on the appropriate therapy. Advances in organ-specific therapy, particularly calcium channel antagonists in Raynaud's phenomenon, proton pump inhibitors in esophageal reflux, intravenous iloprost and endothelin receptor antagonists in pulmonary hypertension, and ACE inhibitors in renal crisis, have decreased morbidity and mortality in patients with scleroderma. Studies of aggressive therapies to prevent or improve pulmonary fibrosis are in progress. Further clinical experience in wound healing, gastrointestinal malabsorption and physical therapy for loss of motion has helped patients to have a more comfortable life. In recent years, a significant number of controlled clinical trials have been performed and there has been improved understanding of the best way to perform studies and of which patients are most likely to respond to therapy. Penicillamine, methotrexate, photopheresis, relaxin, interferons, and cyclosporine have all been studied in controlled trials with variable outcomes. Although an overall remittive therapy has not yet been determined, new, potentially useful agents are being investigated.
Am J Clin Dermatol 2001
PMID:Treatment of systemic sclerosis. 1172 50

Satoyoshi syndrome is a very rare disorder of unknown etiology, characterized by progressive, intermittent, painful muscle spasms, alopecia universalis, diarrhea or unusual malabsorption, various endocrine disorders, and secondary skeletal abnormalities. This report describes a 9-year-old Thai girl who developed alopecia universalis when she was 6 years old. At age 7 years, she began to have recurrent, painful muscle spasms. The spasms progressed in time, producing recurrent patella dislocation. The laboratory investigations and radiologic study were compatible with Satoyoshi syndrome. She was treated with oral corticosteroid therapy, with marked improvement of her muscle spasms and alopecia. She underwent corrective surgery for deformities of both knees with a normal healing process.
Pediatr Dermatol
PMID:Satoyoshi syndrome. 1173 86

A 21-year-old female presented at age 2 years with a chronic mucocutaneous candidiasis and at age 3 alopecia totalis. Later, chronic hypoparathyroidism and autoimmune adrenal insufficiency appeared. In addition, malabsorption syndrome and signs of pernicious anaemia occurred. The onychomycosis totally improved under systemic treatment with fluconazole (Diflucan), endocrine and organ failure with replacement therapy. The autoimmune polyglandular syndrome (APS 1) is a rare autosomal recessive inherited disease. Chronic mucocutaneous candidiasis (CMC) generally presents very early in life and is the most frequent of the three main diseases of APS type 1 (chronic hypoparathyroidism, autoimmune Addison's disease). It can be considered as a precocious marker of APS type 1. Consequently, all patients affected by isolated CMC, especially children, should be evaluated and carefully followed up by immunological, biochemical, and clinical tests to recognize signs and symptoms of imminent or ongoing endocrine glandular failure.
Eur J Dermatol
PMID:Autoimmune polyglandular syndrome (APS) type 1 and candida onychomycosis. 1197 74

A 25-year-old woman with Hallopeau-Siemens recessive dystrophic epidermolysis bullosa had generalized blistering, scarring and milia since birth. In the course of the disease, acral pseudosyndactyly developed, and the patient suffered from corneal erosions, oesophageal strictures, malabsorption, recurrent severe pneumonias and nephrotic syndrome. In addition, she had severe anaemia, sideropaenia, hypocalcaemia, heavy proteinuria and hypoalbuminaemia. A rapidly growing skin squamous cell carcinoma developed on the neck that spread to axillary and cervical lymph nodes. Recurrent hypocalcaemic tetanic convulsions and dyspnoea and a pneumonia refractory to antibiotics led to the premature demise of the patient. Autopsy revealed extensive amyloidosis of the renal, hepatic and splenic tissues. AA type amyloid deposits were detected in the renal glomeruli and in the lung, explaining the patient's unusually severe pulmonary infections. In essence, the patient had severe recessive dystrophic epidermolysis bullosa, complicated by squamous cell carcinoma, recurrent pneumonias and nephrotic syndrome due to secondary amyloidosis of the kidney and lung. The possibility of secondary pulmonary amyloidosis should be considered in severe dystrophic epidermolysis bullosa patients with recurrent pulmonary infections.
Clin Exp Dermatol 2003 Mar
PMID:Dystrophic epidermolysis bullosa complicated by cutaneous squamous cell carcinoma and pulmonary and renal amyloidosis. 1265 5

Prurigo is a condition of nodular cutaneous lesions that itch (pruire) intensely. Although the acute form can be caused by insect stings, most of the subacute and chronic forms appear to be idiopathic. Toxic agents deposited in the skin by exogenous factors such as parasites, bacteria, or topically or orally administered drugs can induce itch. In susceptible individuals, physical mechanisms such as UV light can induce changes in epidermal innervation that result both in itch generally and in prurigo lesions. Prurigo is sometimes associated with atopy, pregnancy, internal diseases, malabsorption, or malignancy. Some forms of prurigo may be secondary to scratching. Emotional factors can also influence the perception of itch and induce prurigo by provoking scratching. These are the various specialized forms of prurigo, and there are certain others, such as prurigo pigmentosa, that have some ethnic preference. Topical treatments by corticosteroids, coal tar, bath photochemotherapy, UVB, cryotherapy, or capsaicin, as well as systemic regimens involving use of psoralen + UVA (PUVA), erythromycin, arotinoid acid, cyclosporine, chloroquine, dapsone, minocycline, naltrexone, azathioprine or thalidomide are used for the treatment of this condition. Psychotherapeutic agents to treat problems of mood that deteriorate prurigo are also prescribed. Combined sequential treatments for generalized, therapy-resistant cases need to be tailored to the exacerbations that occur and to provide maintenance treatment in order to enable the patient to withstand the intolerable itch.
Am J Clin Dermatol 2004
PMID:Prurigo: diagnosis and management. 1510 73

We present a 16-year-old girl with a 4-year history of chronic persistent erythema nodosum. Recurrently low serum iron values suggested the possibility of a malabsorption syndrome. The presence of antitransglutaminase and antiendomysium antibodies and the jejunal biopsy specimen findings showed an underlying celiac disease. On a strict gluten-free diet, the skin lesions resolved and the girl has since remained symptom free for 9 months. Thus celiac disease can be a triggering factor for erythema nodosum. In the chronic form of the skin lesions, serologic testing for this specific enteropathy may be justified.
Pediatr Dermatol
PMID:Erythema nodosum in association with celiac disease. 1516

Zinc is an essential trace element for the human organism. It acts like cofactor for the metalloenzymes involved in many cellular processes. Its anti-inflammatory activity, which is the basis of therapeutic use, other than acrodermatitis enteropathica, is not well known: production of cytokines, antioxidant activity. Its toxicity is very low, but marked at high doses during chronic administration by the risk of hypocupremia. It is not teratogenic and can be given during pregnancy. Its absorption, through the duodenum, is inhibited by excessive phytate intake. Maximum concentration is reached after 2 to 3 hours. It is widely distributed in the organism, mainly in muscles and bone. Excretion is predominantly digestive. Its spectacular effect in acrodermatitis enteropathica, through compensation of genetically determined malabsorption was discovered in 1973. Its usefulness in acne is based on the anti-inflammatory action and was first described with zinc sulfate, then with better tolerated gluconate. Many controlled studies have shown an efficacy on inflammatory lesions. Doses varied from 30 to 150 mg of elemental zinc and studies against cyclines have shown that minocycline has a superior effect; but zinc might be an alternative treatment when cyclines are contraindicated. To date we don't have convincing data for its use in other indications (leishmaniosis, warts, cutaneous ulcers). Tolerance at usual doses (200 mg of zinc gluconate or 30 mg of elemental zinc) is good. Major side effects are abdominal with nausea, vomiting, but are fleeting and dose dependent.
Ann Dermatol Venereol 2004 May
PMID:[Zinc salts in dermatology]. 1523 33

Two cases of zinc deficiency in dairy goats from different flocks and not associated with a zinc-deficient diet are described. Hard, dry, hyperkeratotic skin, hair loss and pruritus especially prominent on the back, legs, udder, face and ears were the most common clinical signs. Skin biopsy findings revealed a mixture of orthokeratotic and parakeratotic hyperkeratosis. On initial examination, serum zinc concentrations were low in both goats (461 microg L(-1) and 521 microg L(-1), respectively). Although mild skin lesions persisted during the early stages of zinc supplementation, skin lesions completely resolved after prolonged oral zinc supplementation. Withdrawal of zinc supplementation resulted in re-appearance of lesions in both animals. Case 2 gave birth to two kids, one of which showed mild skin lesions at 8 months of age together with a low serum zinc concentration (434 microg L(-1)), suggestive of hereditary zinc malabsorption. The other kid remained free of skin lesions and had a serum zinc concentration (530 microg L(-1)) within the normal range. On the basis of historical and clinical findings, the cases presented here more closely resemble Syndrome 1 hereditary zinc deficiency as seen in Nordic dog breeds rather than other zinc deficiency conditions seen in other species. It is suggested that zinc deficiency in these goats was due to hereditary malabsorption of dietary zinc. This is the first descriptive study of this condition in goats. Life-long zinc supplementation may be necessary in such patients.
Vet Dermatol 2005 Aug
PMID:Zinc-responsive dermatosis in goats suggestive of hereditary malabsorption: two field cases. 1610 98


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