Acrodermatitis Enteropathica, Zinc-Deficiency Type; AEZ

What is Acrodermatitis Enteropathica, Zinc-Deficiency Type; AEZ?

Acrodermatitis Enteropathica, Zinc-Deficiency Type; AEZ is a rare disease. It is also known as AEZ.

This condition might appear as early as the first or second week of life, but mostly coincides with the infant weaning from the breast. The skin lesions are red or vesicular/bullous and might be pustular or even develop into verrucous plaques. The lesions are usually sited around orifices. Note that a similar rash has been reported in children with cystic fibrosis (Ghali et al., 1996). A patient (with a mutation) reported by Wang et al., (2008), presented with well-demarcated erythema, blisters and crusts on hands and feet, periorally and perigenitally. The other clinical features include alopecia (often total), nail dystrophy and growth retardation. The prognosis has been revolutionised by zinc therapy. Perafan-Riveros et al., (2002) provide a good review.
De Raeve et al., (1994) reported two infants with methylmalonic acidaemia and one with propionic acidaemia who developed cutaneous lesions resembling acrodermatitis enteropathica. The infants were being fed a low-protein diet limited in branched-chain amino acids. Blecker et al., (1994) reported a further 14-month-old boy with methylmalonic aciduria and abnormal skin lesions.
Wang et al., (2001) mapped the gene to 8q24.3 in a large consanguineous Jordanian family. The linkage was also confirmed in seven consanguineous Egyptian families. Kury et al., (2002) and Wang et al (2002) demonstrated mutations in the SLC39A4 gene. This codes for a transmembrane protein with a metal-binding site (hZIP4). Note the case (Tatlican et al., 2010), with normal zinc levels, but with maternal milk with low zinc levels. Another case with normal Zn levels was reported by Garza-Rodriguez et al., (2015).

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* This information is courtesy of the L M D.

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What gene changes cause Acrodermatitis Enteropathica, Zinc-Deficiency Type; AEZ?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.


In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

OMIM Number - 201100 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
SLC39A4 - 8q24.3

What are the main symptoms of Acrodermatitis Enteropathica, Zinc-Deficiency Type; AEZ?

The typical symptoms of the syndrome are:
Abnormal eyebrow morphology, Abnormal fingernail morphology, Alopecia of scalp, Alopecia, Anorexia, Cheilitis, Ataxia, Cerebral cortical atrophy, Abnormal toenail morphology, Abnormal blistering of the skin, Visual impairment, Malabsorption, Impaired T cell function, Furrowed tongue, Glossitis, Hypogonadism, Short stature, Hepatomegaly, Inflammatory abnormality of the eye, Tremor, Lethargy, Irritability, Low alkaline phosphatase, Autosomal recessive inheritance, Paronychia, Poor appetite, Photophobia, Pustule, Skin ulcer, Recurrent candida infections, Weight loss, Splenomegaly, Infantile onset, Dry skin, Diarrhea, Emotional lability, Corneal erosion, Decreased testosterone in males, Decreased testicular size, Decreased taste sensation, Failure to thrive

How does someone get tested for Acrodermatitis Enteropathica, Zinc-Deficiency Type; AEZ?

The initial testing for Acrodermatitis Enteropathica, Zinc-Deficiency Type; AEZ can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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