Exfoliative Erythroderma Resulting From Inadequate Intake of Branched-Chain Amino Acids in Infants With Maple Syrup Urine Disease

Northrup, Hope; Sigman, Ellen S.; Hebert, Adelaide A.

doi:10.1001/archderm.1993.01680240130027

Cited by 32 publications

(3 citation statements)

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“…There are many conditions involving deficiency or disordered metabolism of nutrients that may present with a cutaneous eruption resembling that seen in malnourished patients with CF (Table 2)T2 (51,55–103). The clinical and histopathologic appearance of the rash in patients with CF, however, most closely resembles that in acrodermatitis enteropathica.…”

Section: Discussionmentioning

confidence: 99%

Malnutrition‐Associated Rash of Cystic Fibrosis

Darmstadt

McGuire

Ziboh

2000

Pediatric Dermatology

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Rash is a rare presenting sign of cystic fibrosis (CF) complicated by protein-calorie malnutrition. We measured essential fatty acid (EFA) levels in the serum of a 4-month-old girl with an erythematous, desquamating, periorificially accentuated rash in association with malnutrition and her 2-year-old sister who was diagnosed concurrently with CF but had no rash or signs of malnutrition. Both patients had biochemical evidence of EFA deficiency, suggesting that development of the rash is multifactorial. Clinical presentation, management, and possible modes of pathogenesis of the rash are reviewed. Pathogenesis of the rash appears to involve a complex interaction among deficiencies of EFAs, zinc, protein, and possibly copper, leading to disordered prostaglandin metabolism or cytokine production, or free radical-induced damage to cellular membranes due to a lack of nutrient-derived protective antioxidants.

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Section: Discussionmentioning

confidence: 99%

Malnutrition‐Associated Rash of Cystic Fibrosis

Darmstadt

McGuire

Ziboh

2000

Pediatric Dermatology

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“…Our first patient demonstrates that an isolated isoleucine deficiency can cause an acrodermatitis enteropathica‐like syndrome in the absence of an inborn error of branched‐chain amino acid degradation, and also shows that an abnormal plasma leucine/isoleucine ratio is not an essential prerequisite for the development of the dermatosis. Furthermore, Northrup et al 5 . described two episodes of exfoliative erythroderma on the trunk, arms and face of a child with MSUD with a deficiency of valine and leucine during the first episode and a deficiency only of valine during the second.…”

Section: Discussionmentioning

confidence: 99%

“…The dermatitis starts with erythematous lesions around the mouth, nose, ears, eyes and perineum, progressing to vesiculobullous lesions, erosions and hyperkeratosis on the face, buttocks and extremities 1 . An acrodermatitis enteropathica‐like syndrome has been reported in patients with zinc deficiency, 2 AIDS, 3 cystic fibrosis, 4 disorders of biotin metabolism 5 and arginine deficiency 6 . Deficiency and imbalance of certain amino acids have also been found to be associated with an acrodermatitis enteropathica‐like syndrome 7 –10 .…”

mentioning

confidence: 99%

Iatrogenic isolated isoleucine deficiency as the cause of an acrodermatitis enteropathica-like syndrome

Bosch

Smitt

Gennip

et al. 1998

British Journal of Dermatology

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We present two patients with a suspected inborn error of metabolism. A female newborn presented with dysmorphic features and convulsions. Metabolic screening suggested a defect in isoleucine degradation. Within 2 weeks after the introduction of an isoleucine-restricted diet, she developed a severe acrodermatitis enteropathica-like syndrome. The plasma level of isoleucine was low with a normal leucine/isoleucine ratio. The second patient, a female infant deficient in leucine as a result of a leucine-restricted diet, did not develop a dermatosis. Isoleucine is essential for normal growth and differentiation of keratinocytes and enterocytes. Deficiency of isoleucine, and not leucine or an imbalance in the leucine/isoleucine ratio, may result in an acrodermatitis enteropathica-like syndrome.

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