Ichthyosis congenital fetalis (Harlequin fetus).
A male fetus which was the product of full-term pregnancy and normal delivery with no family history is presented. The skin was hard and thick, waxy, yellowish in color, and was crossed by horizontal and or perpendicular red fissures. The eyelids were semiclosed, hard, and stiff resulting in ectropion and the conjunctivae were red. The eyelashes and the eyebrows were absent. The nose appeared to be flattened while the nostrils were partly stenosed. The mouth was round and the mucosa was red everted giving a fish-like appearance to the mouth (Fig. 1). There were no ears and they had been replaced by intensive hyperkeratosis with deep fissures, resembling ear lobes without auditory canal, where there was an hyperkeratotic plug (Fig. 2). The inelasticity of the hard and thick skin limited the physiologic movements of the upper and lower extremities and immobilized the interphalangial articular movements. The fetus was treated with corticosteroid ointment but succumbed within the first twenty four hours.
D003937:Diagnosis, Differential; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis* / Q000235:genetics; D007231:Infant, Newborn; D008297:Male