Hereditary zinc deficiency syndrome

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Classification according to ICD-10
E83.2 Zinc metabolism disorders Enteropathic acrodermatitis
ICD-10 online (WHO version 2019)

A acrodermatitis enteropathica is a congenital metabolic disorder with disruption of zinc uptake.

Synonyms are: congenital zinc deficiency; Brandt syndrome after it was first described in 1936 by the Swedish dermatologist Thore Edvard Brandt , Danbolt-Closs syndrome after the Norwegian doctors Karl Philipp Closs and Niels Christian Gauslaa Danbolt , who coined the term acrodermatitis enteropathica in 1942.

Inheritance is autosomal - recessive . The cause lies in an inhibition of zinc absorption from the intestine.

The frequency is given as one to nine cases per million people. It is based on a mutation of the SLC39A4 gene on chromosome 8 q24.3. The gene is responsible for the biosynthesis of the zinc transport protein ZIP4.

diagnosis

As with acquired zinc deficiency, the disease manifests itself in skin changes ( dermatitis ) around body orifices as well as on the fingers and feet ( acra ), with inflammation of the nail bed ( paronychia ), hair loss and diarrhea . The changes start with weaning just a few months after the birth.

therapy

The affected children cannot survive without lifelong zinc substitution. The prognosis is good with continuous administration of zinc sulfate , adapted to the needs during growth and eventual pregnancy .

literature

  • TE Brandt: Dermatitis in Children with Disturbances of the General Conditions and the Absorption of Food Elements. In: Acta Dermato-Venereologica . Stockholm, 1936, Volume 17, pp. 513-546.
  • NCG Danbolt, K. Closs: Akrodermatitis enteropathica. In: Acta Dermato-Venereologica. Stockholm 1942, vol. 23, pp. 127-169.
  • T. Lehnert, S. Küry, G. Bürk, W. Hoepffner, V. Schuster: Acrodermatitis enteropathica (AE) is caused by mutations in the zinc transporter gene SLC39A4. In: Clinical Pediatrics. 2006, Volume 218, pp. 221-223.
  • PKM Beigi, E. Maverakis: Acrodermatitis Enteropathica: A Clinician's Guide . Springer, 2015, ISBN 978-3-319-17818-9 (print) 978-3-319-17819-6 (online)

Individual evidence

  1. ↑ Who named it
  2. ↑ a b Orphanet
  3. ↑ S. Küry, B. Dréno, S. Bézieau, S. Giraudet, M. Kharfi, R. Kamoun, JP. Moisan: Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. In: Nature Genetics. 2002, 31, pp. 239-240. doi: 10.1038 / ng913 . PMID 12068297

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