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Epitheliogenesis imperfecta in a crossbred Holstein calf, southwestern Iran

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Abstract

Epitheliogenesis imperfect (EI) is a rare autosomal recessive skin defect that is clinically identified with absence of cutaneous epithelium of the limbs, muzzle and nostrils as well as oral mucous membranes. This congenital newborn desease is reported mainly in domestic animals. The present study described EI in a 13 day-old, female crossbred Holstein calf. Gross examination showed epithelium agenesis of two front and hind limbs skin around the carpal and tarsal joints, and also extensive areas of the metacarpal and metatarsal regions. The calf died 5 days after antibiotic therapy and use of topical cream.
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... Etiological factors included, inbreeding (Leito et al., 2002) caused by recessive hereditary gene (Yamini et al., 2020). According to Venkataramanan et al. (2010) and Azizi et al. (2016), epitheliogenesis imperfecta is a rare congenital condition marked by an abrupt segmental lack of the epidermis and skin structures descended from epithelial cells, which is most noticeable on the trunk area. The present findings, which include the lack of epithelium across significant portions of the limbs, muzzle, nostrils, tongue, hard palate, and cheeks, are typical and comparable to those documented by Dalir-Naghadeh et al. (2004) and Yamini et al. (2020) in bovines, Bentinck-Smith (1951) in swine, Tontis and Hofstetter (1991) in lambs and Kumar et al. (2021) in Kanni doe. ...
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... The present foetus revealed typical features of achondroplasia as described by Roberts (1986) inbreeding is practiced (Dabas et al., 2013). Epitheliogenesis imperfecta is a rare congenital disorder characterized by an abruptly segmental absence of the epidermis and epithelial derived structures of the skin occuring mainly on the trunk which was reported in a calf by Venkataramanan et al. (2010) and Azizi et al. (2016). In the present foetus, skin failed to develop in the ventral aspect of thorax and abdomen. ...
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