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Acrodermatitis enteropathica

This is caused by zinc deficiency and is distinguished by its classic triad of dermatitis (in a periorificial and acral distribution), alopecia, and diarrhea.

Ataxia telangiectasia

This is a neurocutaneous syndrome distinguished by progressive cerebellar ataxia, oculocutaneous telangiectasias, and immunodeficiency.

Ectodermal dysplasia

This is a group of disorders characterized by abnormalities in at least two ectodermal structures (hair, teeth, nails, sweat glands), in addition to any skin findings.

Glucagonoma syndrome

The characteristic rash is necrolytic migratory erythema, an erosive, migratory rash, seen in the context of a pancreatic tumor.

Hartnup disease

This is an inherited metabolic disorder causing a pellagra-like photosensitive rash, cerebellar ataxia, and aminoaciduria.

Hyperimmunoglobulin E syndrome

Also known as Job syndrome, this is distinguished by the triad of recurrent "cold" staphylococcal abscesses, eczema, and markedly elevated serum IgE.

Netherton syndrome

This is a congenital ichthyosis characterized by a specific hair shaft abnormality ("bamboo hair" or trichorrhexis invaginata) and atopic dermatitis.

Pellagra

This is caused by niacin (B3) deficiency and is defined by the "3 D's": dermatitis (a photosensitive, "casal necklace" rash), diarrhea, and dementia.

Phenylketonuria

This metabolic disorder can cause eczema, but it is defined by CNS symptoms and a "mousy" odor if untreated, and is diagnosed by newborn screening.

Severe combined immunodeficiency

This is a profound immunodeficiency presenting in infancy with failure to thrive and severe, recurrent opportunistic infections in addition to any eczematous rash.

Wiskott-Aldrich syndrome

This is an X-linked syndrome defined by the classic triad of eczema, microthrombocytopenia (small platelets and low count), and immunodeficiency.

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