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Harlequin's syndrome
Also known as:
Harlequin fetus
Riecke's syndrome
Harlequin ichtyosis.
Synonyms:
Ichthyosiform erythroderma, ichtyosis congenita, ichtyosis congenita gravis, ichtyosis congenita ichtyosis fetalis gravis, ichthyosis foetalis, intrauterine ichtyosis, keratoma malignum.
Associated persons:
Harlequin
Rudolf Erhard Riecke
Description:
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.
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