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Harlequin iktiyozis: bir olgu sunumu

Harlequin ichthyosis: a case report

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Abstract (2. Language): 
Harlequin ichthyosis represents the most severe form of nonbullous ichthyosis. It is inherited in an autosomal recessive pattern and very rare. This disease destroys the skin's barrier system and severe cutaneous infections develop in affected newborns. Malformations of ears and nose, and hypoplasia of fingers and nails are seen. It is usually lethal in the neonatal period. A case of Harlequin ichthyosis is herein reported and discussed.
Abstract (Original Language): 
Harlequin iktiyozis nonbüllöz iktiyozisin en ciddi formudur. Otozomal resesif kalıtılır ve son derece nadir görülür. Bu hastalık cildin bariyer sistemini bozar ve etkilenmiş yenidoğanlarda ciddi cilt enfeksiyonları gelişir. Kulaklar ve burunda malformasyon, parmak ve tırnaklarda hipoplazi görülür. Yenidoğan döneminde sıklıkla ölümcüldür. Burada Harlequin iktiyozisli bir vaka sunulmuş ve tartışılmıştır.

REFERENCES

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