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Harlequin iktiyozis: bir olgu sunumu

Harlequin ichthyosis: a case report

Journal Name:

  • Gülhane Tıp Dergisi

Publication Year:

  • 2007

Key Words:

Keywords (Original Language):

Author Name
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.
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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.
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  • 1
52-54
  • Turkish

REFERENCES

References: 

1. Darmstadt GL, Sidbury R. Disorders
of keratinization. In: Behrman RE,
Kliegman RM, Jenson HB (eds).
Nelson Textbook of Pediatrics. 17th
ed. Philadelphia: WB Saunders Company, 2004: 2200-2204.
2. Layton J. A review of harlequin ichthyosis. Neonatal Netw 2005; 24: 17-23.
3. Moreau S, Salame E, Goullet de Rugy
M, Delmas P. Harlequin fetus: a case
report. Surg Radiol Anat 1999; 21:
215-216.
4. Pejaver RK, Prasad RS, Garg AK, Jelly
A, Shawkat S. Etretinate in the management of harlequin siblings. Indian J
Pediatr 1998; 65: 320-323.
5. Dahlstrom JE, McDonald T, Maxwell
L, Jain S. Harlequin ichthyosis-a case
report. Pathology 1995; 27: 289-292.
6. Akiyama M, Sugiyama-Nakagiri Y,
Sakai K, et al. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest
2005; 115: 1777-1784.
7. Stewart H, Smith PT, Gaunt L, et al.
De novo deletion of chromosome 18q
in a baby with harlequin ichthyosis.
Am J Med Genet 2001; 102: 342-345.
8. Prasad RS, Pejaver RK, Hassan A, al
Dusari S, Wooldridge MA. Management and follow-up of harlequin siblings. Br J Dermatol 1994; 130: 650-
653.
9. Giam YC. Etretinate treatment for
Harlequin baby. J Singapore Paediatr
Soc 1992; 34: 217-219.
10.Saraçoðlu ZN, Tekin N, Ürer SM,
Sabuncu I, Akþit A. Oral acitretin treatment in severe congenital ichthyosis
of the neonate. Turk J Pediatr 2002;
44: 61-64.
11.Akiyama M, Kim K, Main D, Otto C.
Characteristic morphologic abnormality of HI detected in amniotic fluid
cells. J Invest Dermatol 1994; 102:
210-213.

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