Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
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Iron deficiency is the world's most common nutritional deficiency and is associated with developmental delay, impaired behavior, diminished intellectual performance, and decreased resistance to infection. In premenopausal women, the most common causes of iron deficiency anemia are menstrual blood loss and pregnancy. In men and postmenopausal women, the most common causes of iron deficiency anemia are gastrointestinal blood loss and malabsorption. Hemoglobin concentration can be used to screen for iron deficiency, whereas serum ferritin concentration can be used to confirm iron deficiency. However, the serum ferritin concentration may be elevated in patients with infectious, inflammatory, and neoplastic conditions. Other tests may be needed, such as erythrocyte zinc protoporphyrin concentration, transferrin concentration, serum iron concentration, and transferrin saturation. The cause of iron deficiency must be identified. If the patient is male, postmenopausal female, or has risk factors for blood loss, then the patient should be evaluated for sources of blood loss, especially gastrointestinal (eg, colon cancer). Several studies have examined the relationship between iron deficiency and hair loss. Almost all have addressed women exclusively and have focused on noncicatricial hair loss. Some suggest that iron deficiency may be related to alopecia areata, androgenetic alopecia, telogen effluvium, and diffuse hair loss, while others do not. Currently, there is insufficient evidence to recommend universal screening for iron deficiency in patients with hair loss. In addition, there is insufficient evidence to recommend giving iron supplementation therapy to patients with hair loss and iron deficiency in the absence of iron deficiency anemia. The decision to do either should be based on clinical judgment. It is our practice at the Cleveland Clinic Foundation to screen male and female patients with both cicatricial and noncicatricial hair loss for iron deficiency. Although this practice is not evidence based per se, we believe that treatment for hair loss is enhanced when iron deficiency, with or without anemia, is treated. Iron deficiency anemia should be treated. Treating iron deficiency without anemia is controversial. Treatment of nutritional iron deficiency anemia includes adequate dietary intake and oral iron supplementation. Excessive iron supplementation can cause iron overload and should be avoided, especially in high-risk patients such as those with hereditary hemochromatosis. Patients who do not respond to iron replacement therapy should undergo additional testing to identify other underlying causes of iron deficiency anemia.
J Am Acad Dermatol 2006 May
PMID:The diagnosis and treatment of iron deficiency and its potential relationship to hair loss. 1731 91

A 17-year-old boy had a 3-year history of diabetes mellitus, malabsorption syndrome, and skin changes consisting of induration, hyperpigmentation, and hypertrichosis on the anterior aspect of both thighs, lower abdomen, and scrotum. Physical examination found hypogonadism, hepatomegaly, gynecomastia, growth retardation, and ankle edema. There was no neuropathy or plasma cell dyscrasia. However, the characteristic skin changes and the combination of symptoms suggest polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome. This is a rare multisystemic disorder of obscure pathogenesis and no conspicuous heredity. Overproduction of vascular endothelial growth factor is thought to cause microangiopathy, neovascularization, and accelerated vasopermeability causing the multiorgan deterioration. Cyclophosphamid cytostatic therapy seems beneficial.
Pediatr Dermatol
PMID:POEMS in childhood. 1665 Feb 24

Phrynoderma is a rare form of follicular hyperkeratosis associated with deficiencies in vitamins A or C or essential fatty acids. We report a 6-year-old boy with an unusual presentation of phrynoderma, characterized by multiple minute digitate hyperkeratoses associated with hair casts and related to a severe deficiency in vitamins A and C complicating a chronic intestinal giardiasis. The lesions responded well to oral vitamins A and C combined with albendazole treatment. Vitamin A deficiency-related phrynoderma is rare in western countries and is usually caused by digestive malabsorption resulting from large intestine resection or pancreatic failure. To our knowledge, this is the first reported instance of phrynoderma related to a chronic intestinal parasitic infection by Giardia intestinalis with intestinal malabsorption as a likely consequence.
Pediatr Dermatol
PMID:Vitamin a deficiency phrynoderma associated with chronic giardiasis. 1691 30

Necrolytic migratory erythema (NME) is an uncommon inflammatory dermatosis with a distinctive clinical and histological appearance. It shows irregular erythema, bullae, erosion, crusts and pigmentation. While it is typically associated with glucagonoma, some cases of NME without glucagonoma have been reported. Herein, we report a case of necrolytic migratory erythema associated with malabsorption 30 years after ileocolectomy. She presented erosive erythema with scale or partly flaccid bullae on her intergluteal cleft, buttock and extremities. Her laboratory data revealed essential amino acid deficiency and a slightly decreased serum zinc level, while her plasma glucagon level was low. With diagnosis of non-glucagonoma-associated NME with malabsorption due to short-bowel syndrome, she was treated and improved by i.v. amino acid supplement. Histological findings of NME include necrotic changes of keratinocytes in the upper epidermis, proliferation of those in the lower epidermis and inflammatory cell infiltration of upper dermis. We also examined the expression pattern of epidermal keratins (K6, K10) and Ki-67, one of the markers of proliferative activity, to assess the proliferation and differentiation of keratinocytes in a NME lesion by immunostaining. The findings with these immunostainings support the characteristics of HE-staining, and suggest hyponutrition may induce changing differentiation/proliferation of keratinocytes.
J Dermatol 2006 Aug
PMID:Necrolytic migratory erythema without glucagonoma in a patient with short bowel syndrome. 1692 38

Cystic fibrosis is an autosomal recessive disease reported in 1 in 2500 live births in Northern American and Northern European Caucasian populations. Classic disease findings include chronic bacterial infection of airways and sinuses, malabsorption of fat, infertility in men, and elevated concentrations of chloride in sweat. Less well-recognized findings associated with cystic fibrosis include cutaneous findings, which can be primary or secondary manifestations of the disease process. Patients demonstrate more atopic and drug hypersensitivity reactions than the general population, but have similar rates of urticaria compared with the general population. In atypical presentations of cystic fibrosis, the nutrient deficiency dermatitis of the disease may aid with diagnosis, and notably can be the presenting sign. Other dermatologic manifestations of cystic fibrosis include early aquagenic skin wrinkling and cutaneous vasculitis, which can be associated with arthralgias. Familiarity with the nutrient deficiency dermatitis of this entity may play a role in the timely diagnosis of the disease, and the other cutaneous findings add to our understanding of the protean nature of its manifestations.
Pediatr Dermatol
PMID:Cutaneous manifestations of cystic fibrosis. 1842 69

Many of the vitamin deficiency diseases have been almost completely eliminated in developed countries. Niacin deficiency is considered one of them. However, cases of pellagra are recently reported in West Europe, USA, Australia, and Japan in connection with chronic alcoholism, gastrointestinal malabsorption, and some medications. We report two cases of pellagra, manifesting as photosensitivity dermatoses with mental deterioration in chronic alcoholic abusers in the Mediterranean basin, the island of Crete in Greece. The report highlights the fact that all physicians should be alerted to photosensitivity dermatoses in alcoholics; early treatment with multiple vitamin therapy, including nicotinic acid should be initiated in these patients.
Dermatol Online J 2008 Nov 15
PMID:The diagnostic importance of photosensitivity dermatoses in chronic alcoholism: report of two cases. 1909 53

Treatment of systemic infections due to mycobacteria and HIV infection can lead to paradoxical worsening, the immune reconstitution inflammatory syndrome, in a minority of patients. Herein we describe a patient with Whipple's disease, a chronic systemic inflammatory disease caused by Tropheryma whipplei, who developed cutaneous and later ocular disease after initiation of antibiotic therapy. A 42-year-old man with a 12-year history of arthralgias presented with deteriorating health, including weight loss, diarrhea, fever, and acral hyperkeratosis. Whipple's disease was suspected and subsequently confirmed by finding periodic acid-Schiff (PAS)-positive foamy macrophages and T whipplei DNA by polymerase chain reaction (PCR) assays in duodenal biopsy specimens. After 5 weeks of antibiotic treatment with ceftriaxone, erythema nodosum (EN)-like lesions developed on the legs and trunk. Notably, lesional and nonlesional skin harbored intracellular and extracellular degenerated bacteria that were associated with a neutrophilic and granulomatous inflammatory response in lesional skin. Continued antibiotic therapy was associated with recurring EN-like skin nodules, orbital swelling, and facial herpes simplex virus 1 infection. Corticosteroid therapy controlled the duration and severity of the EN-like nodules and orbital swelling. Apart from cutaneous hyperpigmentation, skin disease in Whipple's disease is infrequent and can be categorized as disorders due to malnutrition from malabsorption or so-called reversal reactions consisting of reactive erythemas, and neutrophilic and granulomatous responses to T whipplei, the latter of which can represent an immune reconstitution inflammatory reaction after initiation of antibiotic therapy. Finally, based on the presence of T whipplei in normal skin, skin biopsy may serve as another site for diagnostic testing in patients suspected of having Whipple's disease.
J Am Acad Dermatol 2009 Feb
PMID:Erythema nodosum-like lesions in treated Whipple's disease: signs of immune reconstitution inflammatory syndrome. 1915 Feb 71

Normal functioning of the human body requires a balance between nutritional intake and metabolism, and imbalances manifest as nutritional deficiencies or excess. Nutritional deficiency states are associated with social factors (war, poverty, famine, and food fads), medical illnesses with malabsorption (such as Crohn disease, cystic fibrosis, and after bariatric surgery), psychiatric illnesses (eating disorders, autism, alcoholism), and medications. Nutritional excess states result from inadvertent or intentional excessive intake. Cutaneous manifestations of nutritional imbalance can herald other systemic manifestations. This contribution discusses nutritional deficiency and excess syndromes with cutaneous manifestations of particular interest to clinical dermatologists.
Clin Dermatol
PMID:Syndromes associated with nutritional deficiency and excess. 2103 91

Dermatitis herpetiformis (DH) is characterized by chronic, itching papules, seropapules, small vesicles and, exceptionally, large blisters. The distribution of these polymorphic symptoms around the elbow, knee, buttock, and back is suggestive of the diagnosis. DH is further confirmed by the accumulation of granulocytes at the papillary dermis, resulting in a subepidermal split formation and by the presence of a unique, granular IgA precipitate in the uppermost dermis. Prognosis is predominantly determined by other autoimmune pathologies, malabsorption, or very rarely by lymphomas. Some of these diseases can be prevented by an early-onset, strict gluten-free diet, which is therefore the suggested treatment option.
Dermatol Clin 2011 Jul
PMID:An exception within the group of autoimmune blistering diseases: dermatitis herpetiformis, the gluten-sensitive dermopathy. 2160 13

Acrodermatitis enteropathica is classified as a congenital autosomal recessive type and an acquired transient type. This disease manifests as acral and periorificial dermatitis, alopecia, intractable diarrhea, and failure to thrive. Whereas the autosomal hereditary type is caused by malabsorption of zinc in the intestine, the acquired type is caused by low nutritional support or decreased peripheral release of zinc from blood. We experienced a case of a 5-month old, breast feeding, full-term female presenting with only acral bullous dermatitis without diarrhea, periorificial dermatitis and an abnormal serum zinc level.
Ann Dermatol 2011 Sep
PMID:A case of acrodermatitis enteropathica localized on the hands and feet with a normal serum zinc level. 2202 83


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