Enteropathic acrodermatitis (Danbolt-Clossa disease)

Enteropathic acrodermatitis is a disease associated with impaired absorption of zinc, inherited in an autosomal recessive manner. As a result of the defect in the proximal small intestine, the formation of more than 200 enzymes is disrupted. Cell growth and division disorders predominate; the gastrointestinal tract (atrophy of the intestinal mucosa villi, secondary decrease in disaccharidase activity) and the immune system (lymphopenia, impaired T-cell differentiation, decreased antibody formation) are affected.

ICD-10 code

E83.2. Zinc metabolism disorders.

Symptoms

Enteropathic acrodermatitis manifests itself as early as the 2nd-3rd week of life with the withdrawal of breast milk, early onset of artificial feeding. Frequent watery stools occur, anorexia develops, weight gain decreases. Increased neuroreflex excitability is characteristic. Skin changes in the form of a symmetrical rash around the mouth, nasal passages, behind the ears, on the distal parts of the extremities occur gradually: at first, the rash is erythematous, then bullae, vesicles, pustules, hyperkeratosis are formed. When the mucous membranes are damaged, gingivitis, stomatitis, glossitis, blepharitis, conjunctivitis develop. A secondary infection quickly joins in against an immunodeficiency background.

Diagnostics

Diagnosis of enteropathic acrodermatitis is based on the assessment of the clinical picture, detection of decreased zinc levels in the blood serum, zinc excretion in the urine, and absorption of ⁶⁵ Zn. A biochemical blood test shows decreased alkaline phosphatase activity, increased ammonium levels, decreased beta-lipoprotein concentrations, and changes in immune status. Histological examination of the mucous membrane reveals characteristic inclusions in Pannett cells. The disease is differentiated from secondary zinc absorption disorders in inflammatory bowel diseases, mucous membrane atrophy, and post-resection syndrome.

Treatment

Zinc sulfate, acetate or gluconate are prescribed at 10-20 mg per day for children in the first year of life; for patients over one year old, the daily dose is 50-150 mg, depending on age.