Over the years many amazing cases have been presented during the PEMPix presentation at the American Academy of Pediatrics’ annual national Conference and Exhibition during the Section on Emergency Medicine Sessions. PEMPix Classic is a new featured series on PEMBlog that will highlight some of those classic cases.

The Case

A male toddler presents with a worsening rash of four months duration. Initially there were small blisters on the upper extremity extensor surfaces. Then it spread to the diaper area. Next, to the head and face with posterior scalp hair loss.

History is negative for fever, vomiting, diarrhea, and anorexia. He has had normal development. The family has tried several topical treatments including antibiotics, steroids, and antifungals. Three months ago, the family spent three weeks in Mexico. Otherwise there have been no relevant environmental exposures.

His examination revealed normal vitals, he is the 50th percentile for weight, and really he looks great except for his skin.

What is the diagnosis?

A. Eczema herpeticum
B. Hemophagocytic lymphohistiocytosis
C. Epidermolysis bullosa
D. Acrodermatitis enteropathica
E. Staphylococcal scalded skin syndrome

D. Acrodermatitis Enteropathica

This is a zinc malabsorption or zinc nutritional deficiency. There is usually autosomal recessive inheritance in genetic cases. It can also be due to malabsorption or inadequate dietary intake – which is not seemingly the case in this patient. You will see dermatitis with perioral, periorbital, genital, and extensor surfaces involved. The rash can often follow the sequence of vesicles, then bullae, followed by crusting and then lichenification.
 
It is also associated with the following:

  • Nail dysplasia
  • Alopecia
  • Diarrhea
  • Irritability
  • Failure to Thrive
  • Recurrent Infection

This patient ultimately has a zinc level of <50 mcg/dL (normal range 60-110 mcg/dL). It is suspected that this is a genetic problem.

References

Acrodermatitis enteropathica – National Organization of Rare Diseases

Nistor N, Ciontu L, Frasinariu OE, Lupu VV, Ignat A, Streanga V. Acrodermatitis Enteropathica: A Case Report. Medicine (Baltimore). 2016;95(20):e3553. doi:10.1097/MD.0000000000003553