Harlequin ichtyosis (harlequin fetus): case description

Abstract

Harlequin ichtyosis was observed at a girl, who managed to survive till 4 months age. Results of postmortem examination were presented. Diagnostic criteria were described, issues of prenatal diagnostics and treatment opportunities are being discussed.

Full Text

Ихтиоз Арлекина (плод Арлекина): описание случая
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References

  1. Au S., Prendiville J. (2004). Medicine Specialties > Dermatology > Pediatric Diseases. Retrieved Jan. 20, 2004 from http://www.emedicine.com/ derm/topic192.htm
  2. 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(7): 1777-1784.
  3. Thomas A. C., Tattersall D., Norgett E.E., et al. Premature Terminal Differentiation and a Reduction in Specific Proteases Associated with Loss of ABCA12 in Harlequin Ichthyosis. Am J Pathol 2009; 174(3): 970-978.
  4. Akiyama M. The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis. Dermatoendocrinol 2011; 3(2): 107-112.
  5. Chan Y.C., Tay Y.K., Tan L.K., et al. Harlequin ichthyosis in association with hypothyroidism and juvenile rheumatoid arthritis. Pediatr Dermatol 2003; 20(5): 421-6.
  6. Rajpopat S., Moss C., Mellerio J. et al. Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. Arch Dermatol 2011; 147(6): 681-6.
  7. Largueche K., Laarif Z., Ajroud C., Oueslati H. Malignant keratoma: Harlequin fetus. Rev Med Brux 2009; 30(1): 52-4.
  8. Akhdari N., Ouladsiad M., Aboussad A., Amal S. Harlequin ichthyosis. Skinmed 2010; 8(6): 371-2.
  9. Habib A., Pasha W., Raza N., Hameed A. Harlequin ichthyosis in two siblings. J Coll Physicians Surg Pak 2011; 21(8): 503-5.
  10. Hazuku T., Yamada K., Imaizumi M. et al. Unusual protrusion of conjunctiva in two neonates with harlequin ichthyosis. Case Report Ophthalmol 2011; 2(1): 73-7.
  11. Khan R., Arora S., El-Hindy N., Chang B.Y. Repair of cicatricial ectropion in a harlequin baby. J AAPOS 2009; 13(4): 415-6.
  12. Shimizu A., Akiyama M., Ishiko A., et al. Prenatal exclusion of harlequin ichthyosis; potential pitfalls in the timing of the fetal skin biopsy. Br J Dermatol 2005; 153(4): 811-4.
  13. Bongain A., Benoit B., Ejnes L., et al. Harlequin fetus: three-dimensional sonographic findings and new diagnostic approach. Ultrasound Obstet Gynecol 2002; 20(1): 82-5.
  14. Basgul A.Y., Kavak Z.N., Guducu N., et al. Prenatal diagnosis of congenital harlequin ichthyosis with 2D, 3D, and 4D ultrasonography. Clin Exp Obstet Gynecol 2011; 38(3): 283-5.
  15. Suresh S., Vijayalakshmi R., Indrani S., Lata M. Short foot length: a diagnostic pointer for harlequin ichthyosis. J Ultrasound Med 2004; 23(12): 1653-7.

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Copyright (c) 2012 BELIKOV A.N., ALBANOVA V.I., KOMLEVA L.F., GOLCHENKO V.A.

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