Widespread Erythematous Scaly Eruption in an Infant with Phenylketonuria

November 2025 in “ JDDG Journal der Deutschen Dermatologischen Gesellschaft ”

J. Zhang, Jinxiang Yang, Qiuyang Guo, Guofang Li, Ruhong Cheng, Yin Zhuang, Zhirong Yao

phenylketonuria phenylalanine deficiency acrodermatitis enteropathica erythema desquamation sparse hair zinc supplementation intravenous human albumin amino acid levels metabolic dermatitis

Studysummary This study documented a case of an 11-month-old with PKU who developed acrodermatitis enteropathica-like symptoms due to severe phenylalanine deficiency, requiring dietary adjustment to restore phenylalanine levels. Our plain-language summary of this paper — not a Tressless recommendation.

An 11-month-old girl with phenylketonuria (PKU) presented with widespread erythema, desquamation, sparse hair, and other symptoms due to severe phenylalanine (Phe) deficiency from a strict Phe-restricted diet. Initially misdiagnosed as eczema, her condition was identified as an acrodermatitis enteropathica-like eruption secondary to Phe deficiency. Despite zinc supplementation, her skin lesions worsened, prompting hospitalization and treatment with intravenous human albumin and regular formula feeding to restore Phe levels. This led to rapid improvement in her symptoms, including skin lesions and hair regrowth. The case underscores the importance of monitoring blood amino acid levels and recognizing metabolic dermatitis in patients with eczematous eruptions unresponsive to standard treatments.

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Research cited in this study

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research Acrodermatitis Enteropathica in the Pediatric Population: A Literature Review of Real-World Studies

3 citations , June 2025 in “Frontiers in Nutrition”

This study reviewed literature on pediatric acrodermatitis enteropathica and found that zinc deficiency occurred in 75.9% of cases, with zinc supplementation showing therapeutic efficacy in 91.4% of patients; however, it was often ineffective in those with underlying metabolic disorders.

Man-Made Disease: Clinical Manifestations of Low Phenylalanine Levels in an Inadequately Treated Phenylketonuria Patient and Mouse Study

research Man-Made Disease: Clinical Manifestations of Low Phenylalanine Levels in an Inadequately Treated Phenylketonuria Patient and Mouse Study

13 citations , January 2013 in “Molecular genetics and metabolism”

This study reported that mice on a phenylalanine-deficient diet showed symptoms such as weight loss, gastric dilation, and thymic depletion, which echo human phenylalanine deficiency manifestations.