Harlequin's syndrome
Related people
An autosomal recessive form of ichtyosis that is incompatible with extrauterine life. The child is born with abnormal skin which is divided into areas by deep red fissures, diamond-shaped plaques, up to 4-5 cm on one side, that resembles a thick horny armor. The affected infants are usually of low birth-weight and die within 1 week after birth. Aetiology unknown. Inheritance is autosomal recessive.
Bibliography
- E. Seeligmann:
De epidermis imprimis neonatorum desquamatione.
Inaugural dissertation. Berlin, 1841.
[Epidermal desquamation of the newborn.] - E. Riecke:
Über Ichtyosis congenita.
Archiv für Dermatologie und Syphilis, Berlin, 1900, 54: 289-340. - M. S. Thomson, C. P. G. Wakely:
The harlequin fetus. The Journal of Obstetrics and Gynecology of the British Empire, London, 1921, 28: 190-203.