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Hereditary acrodermatitis enteropathica(AEZ)

MedGen UID:
66355
Concept ID:
C0221036
Disease or Syndrome
Synonyms: Acrodermatitis enteropathica; Acrodermatitis enteropathica zinc deficiency type; AEZ; Brandt syndrome; Danbolt-Cross syndrome
SNOMED CT: AE - Acrodermatitis enteropathica (37702000); Primary zinc malabsorption (37702000); Danbolt-Close syndrome (37702000); Acrodermatitis enteropathica (37702000); Hereditary acrodermatitis enteropathica (37702000); Primary zinc malabsorption syndrome (37702000); Brandt syndrome (37702000); Danbolt-Closs syndrome (37702000); Hereditary acrodermatitis enterohepatica (37702000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): SLC39A4 (8q24.3)
 
Monarch Initiative: MONDO:0008713
OMIM®: 201100
Orphanet: ORPHA37

Definition

Acrodermatitis enteropathica of the zinc deficiency type (AEZ) is characterized by intermittent simultaneous occurrence of diarrhea and dermatitis with failure to thrive. Alopecia of the scalp, eyebrows, and eyelashes is a usual feature. The skin lesions are bullous. Noteworthy is the cure by diodoquin, or diiodohydroxyquinoline (Dillaha et al., 1953; Bloom and Sobel, 1955). Rodin and Goldman (1969) described autopsy findings, including pancreatic islet hyperplasia, absence of the thymus and of germinal centers, and plasmocytosis of lymph nodes and spleen. [from OMIM]

Clinical features

From HPO
Decreased testicular size
MedGen UID:
66027
Concept ID:
C0241355
Finding
Reduced volume of the testicle (the male gonad).
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
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).
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Poor appetite
MedGen UID:
68562
Concept ID:
C0232462
Sign or Symptom
A reduced desire to eat.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Lethargy
MedGen UID:
7310
Concept ID:
C0023380
Sign or Symptom
A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Emotional lability
MedGen UID:
39319
Concept ID:
C0085633
Mental or Behavioral Dysfunction
Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.
Irritability
MedGen UID:
397841
Concept ID:
C2700617
Mental Process
A proneness to anger, i.e., a tendency to become easily bothered or annoyed.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Impaired T cell function
MedGen UID:
395415
Concept ID:
C1860127
Cell or Molecular Dysfunction
Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.
Recurrent candida infections
MedGen UID:
348028
Concept ID:
C1860128
Finding
An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections.
Low alkaline phosphatase
MedGen UID:
349734
Concept ID:
C1860130
Finding
Abnormally reduced serum levels of alkaline phosphatase.
Decreased serum zinc
MedGen UID:
1642863
Concept ID:
C4703561
Finding
A reduced concentration of zinc in the blood.
Hypogeusia
MedGen UID:
57498
Concept ID:
C0151934
Finding
A decreased ability to perceive flavor.
Alopecia of scalp
MedGen UID:
658454
Concept ID:
C0574769
Finding
Paronychia
MedGen UID:
45334
Concept ID:
C0030578
Disease or Syndrome
The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia).
Dry skin
MedGen UID:
56250
Concept ID:
C0151908
Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
Perianal erythema
MedGen UID:
473350
Concept ID:
C1112161
Finding
Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the anus.
Perioral erythema
MedGen UID:
340873
Concept ID:
C1855458
Finding
Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth.
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
A decreased functionality of the gonad.
Decreased serum testosterone concentration
MedGen UID:
892974
Concept ID:
C4073137
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary acrodermatitis enteropathica
Follow this link to review classifications for Hereditary acrodermatitis enteropathica in Orphanet.

Professional guidelines

Curated

Küry S, Kharfi M, Schmitt S, Bézieau S
Eur J Hum Genet 2012 Mar;20(3) Epub 2011 Dec 14 doi: 10.1038/ejhg.2011.227. PMID: 22166942Free PMC Article

Recent clinical studies

Etiology

Good RA, West A, Fernandes G
Fed Proc 1980 Nov;39(13):3098-104. PMID: 6968692

Diagnosis

Graves K, Kestenbaum T, Kalivas J
Arch Dermatol 1980 May;116(5):562-4. PMID: 7377790

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