Congenital Zinc Deficiency is also known as Acrodermatitis Enteropathica. The other names for the condition are Brandt syndrome and Danbolt cross syndrome. The disease is an inborn error in zinc metabolism and is inherited as a autosomal recessive disorder. This means that out of four babies born to the carrier couple one will be suffering with the disease, two of the babies will be carrier and one of the babies will neither be sufferer of the disease and nor the carrier.

The children having this disorder suffer from zinc deficiency which may be due to inadequate intake, malabsorption, excessive loss, or a combination of these factors. Most of the symptoms of the disease are reversible and if treated promptly and earlier they resolve without leaving any sequelae. Infants typically present with periorificial and acral dermatitis, diarrhea, behavioral changes and neurologic disturbances. Older children may show features of failure to thrive, alopecia, anorexia and nail dystrophies, even frequent infections are common. If the condition is left untreated then the patient may die in first few years and may show growth retardation, dermatitis, alopecia and repeated superficial infections. All the symptoms are reversible with the treatment and the patients respond well. The disease shows no sexual preponderance; both the sexes are equally affected. Symptoms of the disease appear typically when the infant is weaned from breastfeeding.

Signs and Symptoms

• Erythematous and Pustular lesions characteristic of Periorificial and Acral dermatitis are present
• Paronychia
• Sharp demarcation of the borders of the affected areas
• Dermatitis
• Partial or complete hair loss may be a finding in some patients
• Diarrhea
• Red glossy tongue
• Impaired wound healing
• Failure to thrive
• Skin bullae
• Skin vesicles

Diagnosis and Investigations

Diagnosis is mainly based on the clinical symptoms and the presentation along with the typical age of presentation. Blood tests are done to establish the diagnosis of low zinc values and to look for any concurrent infections or disorders.

Treatment and Medications

• Zinc therapy is given throughout the life span
• Zinc gluconate or zinc sulfate is given orally as a part of daily oral dose
• Response is visible within a week
• Some stressful conditions like pregnancy may require higher dosage
• If absorption from the gut is not impaired then a zinc rich diet is prescribed