Harlequin ichthyosis

Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.

Short foot

A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).

Total: 3

(per page)

PMID (PMCID)
15557308	FEMALE	Adult
	Short foot length: a diagnostic pointer for harlequin ichthyosis.
	Suresh S, Vijayalakshmi R, Indrani S, Lata M. J Ultrasound Med. 2004;23(12):1653-7.
	We report 3 cases of harlequin ichthyosis, 2 of them diagnosed in the third trimester with abnormal facial features and another second-trimester sonographic diagnosis based on short foot length, without eclabium and ectropion.
15557308	FEMALE	Adult
	Short foot length: a diagnostic pointer for harlequin ichthyosis.
	Suresh S, Vijayalakshmi R, Indrani S, Lata M. J Ultrasound Med. 2004;23(12):1653-7.
	Short foot length: a diagnostic pointer for harlequin ichthyosis.
15557308	FEMALE	Adult
	Short foot length: a diagnostic pointer for harlequin ichthyosis.
	Suresh S, Vijayalakshmi R, Indrani S, Lata M. J Ultrasound Med. 2004;23(12):1653-7.
	We aimed to see whether a short foot length could be a pointer for the diagnosis of harlequin ichthyosis in the second trimester before the full phenotypic manifestation, which is usually seen in the third trimester.