137 MED ARH. 2012; 66(2): 137-139 • case report Acrodermatitis enteropathica MED ARH. 2012; 66(2): 137-139 CASE REPORT Acrodermatitis enteropathica Mehmedali azemi 1 , Majlinda berisha 1 , Selim Kolgeci 2 , Muharrem Avdiu 1 , Teuta Hoxha-Kamberi 1 , Afërdita Daka 3 Paediatrics Clinic, University Clinical Centre of Kosovo, Prishtina, Kosovo 1 Obstetric and Gynecology Clinic, University Clinical Centre of Kosovo, Prishtina, Kosovo 2 Dermatovenerology Clinic, University Clinical Centre of Kosovo, Prishtina, Kosovo 3 A im: Te aim of the work was the presentation of one case with Acro- dermatitis enteropathica. Methods: Acrodermatitis enteropathica is diagnosed based on the pedigree, typical clinical manifestations on the skin, laboratory results, small bowel biopsy, skin biopsy and kariotype. Results: Te patient was a two years old male toddler, hospitalized due to skin changes, chronic diarrhoea and total alopecia. Skin changes appeared on akral of the limbs, inguinal and perineal region, joints, perioral area and eyes. Tese changes appeared in diferent forms (erythematous, squamous, eczematiod, psoriasisforme and crusted). In the eyes were present these changes: blepharitis and conjunctivitis. Also total alopecia was prezent. Di- arrhoea was chronic and specifc. Laboratory fndings showed the existence of sideropenic anemia, hypoproteinemia with hypoalbuminemia and low plasma zinc concentration (7.5 µmol/L). Hystopathological changes on the small bowel and skin biopsy were not typical for this disease. Following the beginning of treatment with zinc sulphate, all clinical skin manifestations disappeared within two months, but the disease itself was characterized with the periods of exarcerbation and remission. Conclusion: Acrodermatitis Enteropathica is a rare hereditary autosomal recessive disease. Mandatory clinical manifestations are: skin changes, chronic diarrhoea and alopecia. Treatment with zinc is obligatory for the life time. Key words: Acrodermatitis, Diarrhoea, Alopecia. Corresponding author: Assoc. prof. Mehmedali Azemi, MD, PhD, Paediatrics Clinic, University Clinic Centre of Kosovo. Mother Theresa street n.n., Prishtinë Tel +377(44)146-463; E- mail: mehmedaliazemi@hotmail.com 1. iNTRODUCTiON Acrodermatitis enteropathica is a disease caused by disorder of zinc ab- sorption. It is inherited in autosomal recessive manner, mutant gene SLC 39 A 4 is located on the chromosome band 8q24.3. The global incidence rate is 1:500.000 newborns. Genetic mutation in zinc absorption in the small bowel consists in the specifc gene which en- codes the transport of zinc SLC 39 A 4.. Molecular pathogenetic mechanism consists in the total defciency of bind- ing factor of zinc, which is produced in pancreas. Tis factor connects and transports zinc to the epithelial cells of the small bowel. Tis factor is also secreted in breast milk, therefore the clinical manifestations of this disease are not present among the breastfeeded toddlers (5, 6, 9). It appears very rarely among the newborns, it does appear among all groups independent of their ethnic or- igin or sex (2). Te disease is character- ized by three clinical manifestations: acral dermatitis, diarrhoea and alope- cia (3, 12). 2. AIM Te aim of this work was the pre- sentation of one case with Acroder- matitis enteropathica. Te patient was treated at the Paediatric Clinic, being at the same time the frst case regis- tered in Kosovo. 3. METHODS For the diasease diagnose the fol- lowing were used: anamnesis, physical examination (described skin changes), plasma zinc concentrations (measured using atomic absorption spectropho- tometry), small bowel biopsy, skin bi- opsy, pedigree and kariotype (was done from peripheral blood lymphocytes). 4. CASE PRESENTATION Patient (M.R), male, two-year old, weight 10.5 kg (<5percentile), height 82 cm (5-10 percentile), has growth failure. He was a third child from the third pregnancy (Figure 1) and was hospitalized at the Paediatric Clinic of Prishtina during 2008 due to some skin changes and chronic diarrhoea. The skin changes started to appear subsequently with feeding the toddler with the cow’s milk, when the toddler FigURE 1. Pegidree of the family of a child with Acrodermatitis enteropathica doi: 10.5455/medarh.2012.66.137-139 Received: October 26th 2011 Accepted: January 05th 2012 © Avicena 2012