Acrodermatitis enteropathica

What it is

From: Orphanet

A rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Abnormal blistering of the skin · Very frequent (99-80%)

The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.

Abnormal eyebrow morphology · Very frequent (99-80%)

An abnormality of the eyebrow.

Abnormal eyelid morphology · Very frequent (99-80%)

An abnormality of the eyelids.

Alopecia · Very frequent (99-80%)

A noncongenital process of hair loss, which may progress to partial or complete baldness.

Cerebral cortical atrophy · Very frequent (99-80%)

Atrophy of the cortex of the cerebrum.

Chronic diarrhea · Very frequent (99-80%)

The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.

Dry skin · Very frequent (99-80%)

Skin characterized by the lack of natural or normal moisture.

Erythema · Very frequent (99-80%)

Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.

Generalized abnormality of skin · Very frequent (99-80%)

An abnormality of the skin that is not localized to any one particular region.

Malabsorption · Very frequent (99-80%)

Impaired ability to absorb one or more nutrients from the intestine.

Pustule · Very frequent (99-80%)

A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.

Short stature · Very frequent (99-80%)

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

Abnormal nail morphology · Frequent (79-30%)

Abnormal structure or appearance of the nail.

Abnormality of the tongue · Frequent (79-30%)

Any abnormality of the tongue.

Other findings in the same source

From: Orphanet

Additional reported features include Blepharitis (Frequent (79-30%)); Cheilitis (Frequent (79-30%)); Conjunctivitis (Frequent (79-30%)); Emotional lability (Frequent (79-30%)); Failure to thrive (Frequent (79-30%)); Furrowed tongue (Frequent (79-30%)); Glossitis (Frequent (79-30%)); Paronychia (Frequent (79-30%)); Photophobia (Frequent (79-30%)); Ridged fingernail (Frequent (79-30%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Infancy; Neonatal

Inheritance in the source

From: Orphanet

Autosomal recessive

Frequency and the population described

From: Orphanet

Prevalence at birth: 1-9 / 1 000 000; Denmark; Value and class. Point prevalence: Unknown; Europe; Class only.

Understanding the inheritance label

From: MedlinePlus Genetics

An autosomal recessive pattern usually involves disease-causing changes in both copies of a gene. Parents may each carry one altered copy without having the condition themselves. A genetic counsellor can explain carrier testing and reproductive implications using the actual laboratory findings, rather than the condition name alone.

Which doctor should you see?

The suggested department for discussing Acrodermatitis enteropathica is Dermatology, with a dermatologist as the relevant type of clinician. Dermatologist; paediatric services for children as appropriate.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Which features of the skin, hair or nails distinguish the possibilities?
• Would photographs over time help document the changes?
• What should be expected from treatment, and how will irritation or other adverse effects be managed?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Acrodermatitis enteropathica. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.