Dr. Venumadhav,Dr.SajithaNair,DrC Jayakumar
Department of Pediatrics, Amrita Institute of Medical Sciences
Introduction
A four year old female child presented with the complaints of vesiculobullous lesions over bilateral hands, elbows, feet, knee, perioral and perianal regions since 1 year of age.
She is born term, AGA, developmentally normal and immunized according to the NIS schedule. She had similar leisons at 1 year of age, treated with indigenous medications. As her skin lesions worsened over the past one month and she developed alopecia, loose stools, she was brought to AIMS OPD for detailed evaluation and management.
There was no history of fever,cough, recurrent loose stools, ear discharge, sinopulmonary infections.
Examination and Investigations:
Child was afebrile with stable vitals. There was no pallor, icterus, cyanosis, clubbing, lymphadenopathy, or generalized edema. Multiple hyperpigmented scaly crusted plaques with hyperkeratotic skin lesions developed over bilateral knees, elbows, palmar surface of thumbs and over flexures. Multiple skin coloured papules over b/l knees.
On dermascope, Scarring alopecia with few crusted plaques seen over occiput. Scaling and erythema over angle of lips , with dystrophic nails. Her diet is adequate for calories and proteins.
She was between 0 and -2 SD in her weight and height parameters. Systemic examination was within normal limits.
Differential diagnosis:
Acrodermatitis enteropathica
Atopic Dermatits
Immunodeficiency
Inflammatory Bowel disease
other Micro nutrient deficiencies
Counts were normal
TC-8330, N/L-24/58%, Plt-3.44lakhs, Hb-12.4gm/dl
CRP(1.16).
ALP -Zn dependent enzyme done was low .
LFT, RFT
Serum electrolytes- Na, K,Ca, Mg ,Ph done were within normal limits.
Peripheral Blood smear done showed Normocytic normochromic blood picture with eosinophilia.
No Atypical cells or Blasts.
Serum IgE levels done were >2500IU/ml. IgM,IgA,IgG levels done were normal.
T/B/NK cell flow cytometry done were within normal limits.
Vitamin B 12, Folic acid levels done were within normal limits.
Serum quantitiave Zn levels done ICP-AES, showed low serum Zn levels of 22mcg/dl. (58-151mcg/dl)
Based on clinical findings of dermatitis, Alopecia and loose stools with low ALP and Serum Zn levels, a diagnosis of Acrodermatitis Enteropathica was made.
WES was sent, showed homozygous SLC39A4 mutation s/o AR type of Acrodermatitis Enteropathica.
She was started on Adequate dose of Zinc supplemets(3mg/kg/day) , Antihistamines, ORS along with other supplements.
On follow up, lesions are healed, Nails were normal. Repeat serum Zn levels dones were 54mcg/dl.
DISCUSSION:
Acrodermatitis enteropathica is a rare autosomal recessive genetic disorder caused mutations in the SLC39A4 gene, which encodes a zinc transporter protein. This results in impaired zinc absorption in the small intestine, leading to zinc deficiency. The condition typically presents in infancy with symptoms such as periorificial and acral dermatitis, alopecia, and diarrhea. Additional clinical features may include irritability, growth retardation, and immune dysfunction, making affected individuals more susceptible to infections. Diagnosis is confirmed through clinical evaluation, low serum zinc levels, and genetic testing. Treatment involves lifelong oral zinc supplementation, which usually results in rapid improvement of symptoms. Early diagnosis and management are crucial to prevent complications and ensure normal growth and development.