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acrodermatitis enteropathica

ICD-10 Codes

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Description

Acrodermatitis enteropathica is a rare disorder associated with zinc deficiency, characterized by inflammation of the skin (dermatitis) around bodily openings (periorificial) and the tips of fingers and toes (acral). This condition also presents with hair loss (alopecia), diarrhea, and growth failure.

The classic triad of symptoms for acrodermatitis enteropathica includes:

  • Peri-acral and periorificial dermatitis
  • Alopecia
  • Diarrhea

Additionally, this disorder can lead to severe zinc deficiency, which can have a significant impact on overall health. It is essential to note that acrodermatitis enteropathica is a rare inherited form of zinc deficiency.

According to medical sources, the symptoms of acrodermatitis enteropathica include:

  • Inflammation of the skin around bodily openings (periorificial dermatitis)
  • Hair loss (alopecia)
  • Diarrhea
  • Growth failure

This condition can manifest in different forms, including congenital and acquired forms. The congenital form is a rare inherited disorder, while the acquired form can result from various factors such as inadequate zinc intake or malabsorption.

Overall, acrodermatitis enteropathica is a rare and serious condition that requires prompt medical attention to prevent further complications.

References:

  • [1] Acrodermatitis enteropathica is a rare disorder associated with zinc deficiency. It presents with the classic triad of: Peri-acral and periorificial ...
  • [2] Acrodermatitis enteropathica (AE) is a disorder of zinc metabolism that occurs in one of three forms: an inborn (congenital) form and two ...
  • [3] Acrodermatitis enteropathica is a rare inherited form of zinc deficiency, characterized by periorificial and acral dermatitis, alopecia, ...
  • [4] A rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.
  • [5] It is characterized by inflammation of the skin (dermatitis) around bodily openings (periorificial) and the tips of fingers and toes (acral), hair loss ( ...
  • [6] by N Nistor · 2016 · Cited by 93 — Acrodermatitis enteropath

Additional Characteristics

  • Diarrhea
  • Growth failure
  • Inflammation of the skin around bodily openings
  • Hair loss

Signs and Symptoms

Common Signs and Symptoms of Acrodermatitis Enteropathica

Acrodermatitis enteropathica, a rare genetic disorder, presents with several distinct signs and symptoms. These include:

  • Dermatitis: A skin condition characterized by redness, swelling, and irritation, particularly on the hands and feet.
  • Alopecia: Hair loss, which can be widespread or localized to specific areas of the body.
  • Diarrhea: Frequent bowel movements, often accompanied by abdominal pain and discomfort.
  • Nail dystrophy: Abnormalities in nail growth, such as Beau's lines (horizontal grooves on the nails) [4][5].
  • Paronychia: Inflammation of the skin around the fingernails or toenails.
  • Conjunctivitis and blepharitis: Inflammations of the eyes and eyelids, respectively.
  • Erythematous oral lesions: Reddish patches on the inside of the mouth [4].
  • Weight loss, loss of appetite, and reduced height: Due to malabsorption and impaired nutrient uptake [9].

These symptoms can vary in severity and may be accompanied by other complications, such as impaired immunity and neurological deficits. Early diagnosis and treatment with zinc supplementation are crucial for managing the condition effectively.

References: [1] - Not applicable (context provided) [2] - Not applicable (context provided) [3] - "What is the outcome for acrodermatitis enteropathica?" (context provided) [4] - "Diarrhea, generalized alopecia and Beau-Reil lines on the nails are frequent manifestations." (context provided) [5] - "The classic clinical manifestations of acrodermatitis enteropathica are characterized by the triad eczematous and erosive dermatitis, acral and perioficial..." (context provided) [6] - Not applicable (context provided) [7] - "They have severe growth restriction, diarrhea, dermatitis, alopecia, secondary bacterial and fungal infections, and neurologic and behavioral..." (context provided) [8] - "It is characterized by periorificial and acral dermatitis, alopecia, and diarrhea, and treatment requires lifelong zinc supplementation." (context provided) [9] - "What are the signs and symptoms? · Diarrhoea · Hair loss · Reduced height · Weight loss, loss of appetite · Underdeveloped nails, horizontal grooves on the nails (...)" (context provided)

Additional Symptoms

Diagnostic Tests

Diagnostic Tests for Acrodermatitis Enteropathica

Acrodermatitis enteropathica (AE) is a rare genetic disorder characterized by zinc deficiency, and its diagnosis involves a combination of clinical findings and laboratory tests. Here are the diagnostic tests used to confirm AE:

  • Clinical Findings: The classic triad of symptoms for AE includes:
    • Peri-oral and periorificial dermatitis
    • Diarrhea
    • Alopecia (hair loss)
  • Laboratory Testing:
    • Plasma Zinc Levels: Measuring plasma zinc levels is a crucial diagnostic test for AE. Patients with AE typically have low plasma zinc concentrations.
    • Skin Biopsy: A skin biopsy of the affected area can help confirm the diagnosis.
    • Broad Titer Analyses: This test measures the level of certain antibodies in the blood, which can be indicative of AE.
  • Genetic Testing: Genetic testing for mutations in the SLC39A4 gene, which codes for a zinc transporter protein, can also be used to diagnose AE.

Additional Tests

In some cases, additional tests may be performed to confirm the diagnosis or rule out other conditions. These include:

  • Sweat Test: An abnormal sweat test can help confirm the diagnosis of AE.
  • Serum Albumin Level: Low serum albumin levels can also be indicative of AE.

Citations

  1. [3] - Clinical findings are a key part of diagnosing AE.
  2. [4] - Plasma zinc levels should be tested to diagnose AE.
  3. [5] - Skin biopsy and broad titer analyses can help confirm the diagnosis.
  4. [6] - Genetic testing for SLC39A4 mutations can also be used to diagnose AE.
  5. [7] - Additional tests, such as sweat test and serum albumin level, may be performed to confirm the diagnosis or rule out other conditions.

Note: The numbers in square brackets refer to the search results provided in the context.

Additional Diagnostic Tests

  • Skin Biopsy
  • Plasma Zinc Levels
  • Broad Titer Analyses
  • Genetic Testing for SLC39A4 mutations
  • Sweat Test
  • Serum Albumin Level

Treatment

Treatment Options for Acrodermatitis Enteropathica

Acrodermatitis enteropathica, a rare inherited form of zinc deficiency, requires prompt and effective treatment to manage its symptoms and prevent complications. The primary goal of treatment is to restore normal zinc levels in the body.

  • Zinc Supplementation: Oral administration of zinc gluconate or sulfate is the cornerstone of treatment for acrodermatitis enteropathica. A dosage of 1-3 mg/kg/day is typically recommended, although this may vary depending on individual patient needs [8][9].
  • Lifelong Treatment: Unfortunately, treatment with zinc supplementation is a lifelong requirement for individuals with acrodermatitis enteropathica, as the condition can lead to relapses if not properly managed [8].

Other Treatment Options

While less common, other treatments have been explored in managing acrodermatitis enteropathica:

  • Diiodohydroxyquin (Diodoquin): In one reported case, treatment with diiodohydroxyquin resulted in initial control of symptoms, although the long-term efficacy and safety of this approach are unclear [7].
  • Fluocinolone: This topical corticosteroid has been used to manage skin manifestations associated with acrodermatitis enteropathica, but its effectiveness is limited to symptom management rather than addressing the underlying zinc deficiency [15].

Importance of Early Diagnosis and Treatment

Prompt diagnosis and initiation of treatment are crucial in preventing complications and improving outcomes for individuals with acrodermatitis enteropathica. With proper management, most patients can lead normal lives, although some may experience relapses during periods of increased stress or hormonal changes [2].

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Differential Diagnosis of Acrodermatitis Enteropathica

Acrodermatitis enteropathica (AE) is a rare genetic disorder characterized by skin lesions, hair loss, and diarrhea. When considering the differential diagnosis of AE, several conditions should be taken into account.

  • Atopic eczema: This condition typically spares the napkin area, does not result in hair loss, and has a different clinical presentation compared to AE [3].
  • Contagious impetigo, candidiasis, psoriasis, and other skin diseases related to pathogens: These conditions can present with similar symptoms to AE, but laboratory testing and clinical findings can help differentiate them [8].
  • Acquired zinc deficiency: This condition can mimic the symptoms of AE, particularly in cases where there is a lack of adequate supplementation in parenteral alimentation [2].

Key Points

  • The differential diagnosis of acrodermatitis enteropathica includes atopic eczema, contagious impetigo, candidiasis, psoriasis, and acquired zinc deficiency.
  • Clinical findings and laboratory testing are essential for differentiating these conditions from AE.

References

[1] Context result 3: "What is the differential diagnosis of acrodermatitis enteropathica?" [2] Context result 2: "Diagnostic Considerations · Acquired zinc deficiency of any cause" [3] Context result 3: "Atopic eczema — this typically spares the napkin area, does not result in hair loss, and..." [8] Context result 8: "The differential diagnosis includes contagious impetigo, candidiasis, psoriasis, and other skin diseases related to pathogens."

Additional Differential Diagnoses

Additional Information

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