Harlequin fetus: a case report
Keywords:
Harlequin fetus, ichthyosis congenita, eclabium, ectropionAbstract
Harlequin fetus is the most severe form of congenital ichthyosis with the incidence of one in 300,000 births. An autosomal recessive pattern of inheritance is seen mostly. This disorder has ominous prognosis invariably. We report here a case of harlequin fetus born to consanguineous parents. He had typical skin manifestations. Supportive treatment was offered but he died on 5th day of life.References
Darmstadt GL, Sidbury R. The skin. In: Behrman RE, Kliegman RM, Jenson HB, editors. Nelson Textbook of Pediatrics, 17th edn. Philadelphia: WB Saunders; 2004. p. 2153-2250.
Dolunay G, Ilknur K, Merve B. A case of harlequin fetus with psoriasis in his family. J Pediatr and Neonatol 2001; 2: 1-7.
Chan YC, Tay YK, Tan LK et al. Harlequin ichthyosis in association with hypothyroidism and juvenile rheumatoid arthritis. Pediatr Dermatol 2003; 20: 421-6.
Sheila AU, Julitte S, Abby Van et al. Ichthyosis fetalis [online] 2005[cited 2005 Sep 27]. Available from:URL:http://www.emedicine.com/derm/topic192.htm.
Hovnanian A. Harliquen ichthyosis unmasked: a defect in lipid transport. J Clin Invest 2005; 115: 1708-10.
Kelsell DP, Norgett EE, Unsworth H et al. Mutations in ABCA12 underlie the severe skin disease harlequin ichthyosis. Am J Hum Genet 2005; 76: 794-803.
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: 1777-84.
Multani AS, Sheth FJ, Shah VC, Chinoy NJ, Pathak S. Three siblings with harlequin ichthyosis in an Indian family. Early Human Dev 1996; 19: 229-33.
Malik NA, Ghauri AQ. Harlequin fetus. J Coll Physicians Surg Pak 2004; 14: 294-5.
Suresh S, Vijayalakshmi R, Indrni S, Lata M. Short foot length: a diagnostic pointer for harlequin ichthyosis. J Ultrasound Med 2004; 23: 1653-7.
