Acrodermatitis enteropathica

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Acrodermatitis enteropathica
Other namesAcrodermatitis enteropathica, zinc deficiency type [1]
Autorecessive.svg
Acrodermatitis enteropathica inheritance
Specialty Endocrinology   OOjs UI icon edit-ltr-progressive.svg
SymptomsDry skin, Emotional lability, Blistering of skin [2]
CausesMutation of the SLC39A4 gene [3]
Diagnostic method Skin biopsy, Plasma zinc level [3]
TreatmentDietary zinc supplementation [1]

Acrodermatitis enteropathica is an autosomal recessive metabolic disorder affecting the uptake of zinc through the inner lining of the bowel, the mucous membrane. It is characterized by inflammation of the skin (dermatitis) around bodily openings (periorificial) and the tips of fingers and toes (acral), hair loss (alopecia), and diarrhea. It can also be related to deficiency of zinc due to other, i.e. congenital causes. [3] [4]

Contents

Other names for acrodermatitis enteropathica include Brandt syndrome and Danbolt–Cross syndrome. [5]

Signs and symptoms

Individuals with acrodermatitis enteropathica may present with the following: [2]

Alopecia (loss of hair from the scalp, eyebrows, and eyelashes) may occur. Skin lesions may be secondarily infected by bacteria such as Staphylococcus aureus or fungi such as Candida albicans . These skin lesions are accompanied by diarrhea. [6]

Genetics

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Chr 8

Acrodermatitis enteropathica, in terms of genetics, indicates that a mutation of the SLC39A4 gene on chromosome 8 q24.3 is responsible for the disorder. The SLC39A4 gene encodes a transmembrane protein that serves as a zinc uptake protein. The features of the disease usually start manifesting as an infant is weaned from breast milk. Zinc is very important as it is involved in the function of approximately 100 enzymes in the human body. [3] [1] [7] [8]

Diagnosis

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Electron Microscope

The diagnosis of an individual with acrodermatitis enteropathica includes each of the following: [3]

Treatment

Acrodermatitis enteropathica without treatment is fatal, and affected individuals may die within a few years. There is no cure for the condition. Treatment includes lifelong dietary zinc supplementation. [1]

See also

Related Research Articles

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Tricho–rhino–phalangeal syndrome type 2 is a genetic disorder consisting of fine and sparse scalp hair, thin nails, pear-shaped broad nose, and cone-shaped epiphyses of the middle phalanges of some fingers and toes.

References

  1. 1 2 3 4 RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Acrodermatitis enteropathica". www.orpha.net. Retrieved 18 February 2017.
  2. 1 2 "Acrodermatitis enteropathica | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-02-18.
  3. 1 2 3 4 5 "Acrodermatitis Enteropathica: Background, Pathophysiology, Epidemiology". 2017-01-10.Cite journal requires |journal= (help)
  4. Sehgal, V. N.; Jain, S. (2000-11-01). "Acrodermatitis enteropathica". Clinics in Dermatology. 18 (6): 745–748. doi:10.1016/s0738-081x(00)00150-4. ISSN   0738-081X. PMID   11173209.
  5. Stedman, Thomas Lathrop. 2005. Stedman's Medical Eponyms. Baltimore: Lippincott Williams & Wilkins, p. 170.
  6. "Acrodermatitis Enteropathica, DermNet New Zealand".
  7. Reference, Genetics Home. "SLC39A4 gene". Genetics Home Reference. Retrieved 2017-02-18.
  8. Kasana, Shakhenabat; Din, Jamila; Maret, Wolfgang (1 January 2015). "Genetic causes and gene–nutrient interactions in mammalian zinc deficiencies: Acrodermatitis enteropathica and transient neonatal zinc deficiency as examples". Journal of Trace Elements in Medicine and Biology . 29: 47–62. doi:10.1016/j.jtemb.2014.10.003. PMID   25468189.  via ScienceDirect  (Subscription may be required or content may be available in libraries.)

Further reading

Classification
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External resources