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.

Ectropion

An outward turning (eversion) or rotation of the eyelid margin.


Total: 4

                       


(per page)
PMID (PMCID)
27267339
 FEMALE
Generalized morphea in a child with harlequin ichthyosis: a rare association.
Giacomin MF, Franca CM, Oliveira ZN, Machado MC, Sallum AM, Silva CA.
Rev Bras Reumatol Engl Ed. 2016;56(1):82-5.
A 4-years and 6-months girl, diagnosed with harlequin ichthyosis based on diffuse cutaneous thickening, scaling, erythema, ectropion and eclabium since the first hours of birth was described.
27267339
 FEMALE
Generalized morphea in a child with harlequin ichthyosis: a rare association.
Giacomin MF, Franca CM, Oliveira ZN, Machado MC, Sallum AM, Silva CA.
Rev Bras Reumatol Engl Ed. 2016;56(1):82-5.
Harlequin ichthyosis (HI) is a severe and rare hereditary congenital skin disorder characterized by excessive dryness, ectropion and eclabion.
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.
A few cases of antenatal diagnosis of harlequin ichthyosis with typical facial features of ectropion and eclabium have been described.