Harlequin ichthyosis - difficulties in prenatal diagnosis

• Autorzy: Zapalowicz K , Wygledowska G , Roszkowski T , Bednarowska A
• Języki publikacji: EN

Abstrakty

EN

Ichthyoses belong to the group of genodermatoses, characterized by hyperkeratosis and desquamation of the epidermis. Clinical manifestation is heterogeneous and depends on the type of the disease. Harlequin foetus is the most severe form of congenital ichtyosis, inherited as an autosomal recessive trait. The disfunction of the epidermis begins prenatally. Neonates are often born prematurely, in severe condition. At present better care and treatment prolong the length and quality of children’s life. We report a case of harlequin ichthyosis. Parents were healthy and there was no history of ichthyosis or other congenital anomalies in the family. Sonography at the 26th week of gestation revealed anomalies of the fetal face; however, the diagnosis of harlequin ichthyosis was not established prenatally. The male child was born alive at the 37th week of the third pregnancy, with birth weight of 2900g. Typical features of harlequin ichthyosis were present at birth. Intensive neonatological care was necessary. The child survived and at the time of the report was 6 months old and in good condition.

Słowa kluczowe

EN

harlequin ichthyosis; prenatal diagnosis; anomaly; desquamation; genetics; harlequin fetus; genodermatosis; family; hyperkeratosis; ichthyosis; epidermis

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2006
• Tom: 47
• Numer: 2
• Opis fizyczny: p.195-197,fig.,ref.

Twórcy

autor

Zapalowicz K

• Department of Neonatology, Center of Medical Postgraduete Education, Czerniakowska 231, 00-416 Warsaw, Poland

autor

Wygledowska G

• Department of Neonatology, Center of Medical Postgraduete Education, Czerniakowska 231, 00-416 Warsaw, Poland

autor

Roszkowski T

• Department of Gynaecology, Center of Medical Postgraduete Education, Czerniakowska 231, 00-416 Warsaw, Poland

autor

Bednarowska A

• Department of Gynaecology, Center of Medical Postgraduete Education, Czerniakowska 231, 00-416 Warsaw, Poland

Bibliografia

• Akiyama M, 2006. Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: The underlying genetic defects and pathomechanisms. J Dermatol Sci (article in press).
• Akiyama M, Nakagiri-Sugiyama Y, Sakai K, 2005. Mutations in lipid transport ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest 115: 1777-1785.
• Au S, 2004. Ichtyosis foetalis. htttp://www.emedicine.com
• Bianca S, Ingegnosi C, Bonaffini F, 2003. Harlequin foetus. J Postgrad Med 49: 81-82.
• Bongain A, Benoit B, Ejnes L, Lambert JC, Gillet JY, 2002. Harlequin fetus: three dimensional sonographic findings and diagnostic approach, Ultrasound Obstet Gynecol, 20: 82 85.
• Hovnanian A, 2005. Harlequin ichthyosis unmasked: a defect of lipid transport. J Clin Invest 115: 1708-1711.
• Miklaszewska M, Wąsik F, 2000. Dermatologia pediatryczna [Pediatric dermatology], 1st edn. Wroclaw: Volumed (in Polish).
• Murphy-Brown L, Vella JA, Lawlor-Klean P, 2004. Harlequin ichthyosis: a case study. Neonatal Netw 23: 7-12.
• OMIM™(Online Mendelian Inheritance in Man), 2000. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine. Bethesda, MD. URL: www.ncbi.nlm.nih.gov/omim/