1.
Ir Med J
; 110(7): 606, 2017 Aug 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29341518
RESUMO
Harlequin Ichthyosis is a very rare genetic disorder affecting mainly the skin with severe morbidity and mortality. It affects both sexes with incidence of about 1 in 300,000 live births. Autosomal recessive inheritance has been inferred with mutation in ABCA 12 gene identified. Hence, genetic counseling and mutation screening of this gene should be considered in at-risk patients. Death usually occurred in the first 3 months of life due to sepsis, feeding problems and respiratory distress. With improved neonatal care and early introduction of retinoids, its survival rate has increased.
Assuntos
Ictiose Lamelar , Transportadores de Cassetes de Ligação de ATP/genética , Feminino , Humanos , Ictiose Lamelar/complicações , Ictiose Lamelar/tratamento farmacológico , Ictiose Lamelar/genética , Ictiose Lamelar/mortalidade , Lactente , Masculino , Mutação , Retinoides/uso terapêutico , Sepse/complicações , Taxa de Sobrevida
2.
J Obstet Gynaecol
; 32(4): 403-4, 2012 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22519498