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Online Mendelian Inheritance in Man
2010-02-23-11 Harlequin ichthyosis @ Nguyen
, Eva Racanska, MD.**
** Inner Vision Women's Ultrasound, Nashville, Tennessee, USA; Department of Obstetrics and Gynecology, University Hospital Brno, Czech Republic.
Harlequin ichthyosis/ Ichthyosis congenita is the most severe and often lethal form of congenital ichthyosis. There is extreme thickening of the keratin layer of the skin. The affected fetus is covered in the thick plates of cornified skin separated by deep cracks or fissures. The tight skin causes facial deformities, microcephaly and also contractures of the extremities. The affected neonates are at risk of respiratory distress due to restricted breathing, sepsis, dehydration, temperature instability, feeding problems which can often lead to the fatal consequences.
for all types of autosomal recessive congenital ichthyosis is 0.05:10,000. The Harlequin ichthyosis is very rare.
Head: cracked skin; open eyes, due to severe eversion of the eyelids (ectropion); wide lips, fixed into the wide grimase (eclabium)
Skin: thickened with multiple fissures
Extremities: deformation, hypoplasia of the fingers and toes
3D ultrasound helps to make the diagnosis.
Harlequin ichthyosis is an autosomal recessive condition. Heterozygotes (carriers) are asymptomatic. Genetic counseling shoud be offered to the parents who are affected or have an affected child. Disease-causing alleles must be identified before prenatal testing is performed.
Trichothiodystrophy ("sulfur-deficient hair")
Conradi-Hünermann syndrome (X-linked dominant chondrodysplasia punctata)
Hypohidrotic ectodermal dysplasia
Bullous autosomal dominant ichthyoses
Prognosis for such an affected individuals used to be very unfavorable. The quality of life improved with introduction of isotretinoin. Long term survival is still very low. The oldest surviver lives in United Kingdom and is 26 years old at the moment.
The following images present a case of ichthyosis. A 39-year-old G4P3 with non-contributive personal or family history was referred to our hospital at 29 weeks of gestation due to an anomaly of the face. We performed an ultrasound scan and confirmed the facial anomaly together with multiple other findings:
Face with thick lips; cracked skin
Skin, thick and cracked
Extremities with hypoplastic fingers and toes
Our diagnosis based on the ultrasound findings was ichthyosis. The pregnancy was terminated at 30 weeks of gestations.
: Image 1 shows a thickened, Harlequin lips. Image 2 shows a cracked skin on the fetal face.
: Images shows cracks in the skin. Transverse view of the fetal abdomen on the image 4 shows a thickened skin with a crack indicated by arrow.
: Image 6 shows hypoplastic fingers. Image 7 shows the foot with hypoplastic toes, note the thickness of the foot dorsum.
: Fetal face, note large skales, severely everted eye lids - ectropion, Harlequin lips.
: Image 10 shows a detail of the skin on the neck. Image 11 shows a hand with hypoplastic fingers.
: Both feet, short toes, extremely thick dorsum.
1. Kudla M, Timmerman D. Prenatal Diagnosis of Harlequin Ichthyosis Using 3-and 4-Dimensional Sonography.J Ultrasound Med. 2010;29:317-319.
2. OMIM, GeneReviews;
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