Figure 1The clinical appearance of the baby was striking. The skin was hard, thickened, waxy and yellowish in colour. It was split irregularly to reveal erythematous moist fissures. The ears were underdeveloped and rudimentary. There was severe ectropion and eclabium. The baby’s cry was normal, but he was unable to suck effectively. The nose was deformed and flattened. The nostrils were only being visible after the skin removed. There was not chonal atresia. Hairs were underdeveloped
Figure 2 The hands and feet were edematous with claw-like fingers and toes were clenched in a flexed position. The fingers and toes were hypoplastic and ischemic. The nails were absent. The rest of the physical findings were unremarkable.
Figure 3There was a small penis, undescended testes, and a rudimentary scrotum. The limbs were in a semiflexed position and had limited mobility.
Harlequin fetus is the most severe form of congenital ichthyosis with an incidence of one in 300.000 births. An autosomal recessive pattern of inheritance is seen in this disorder. However; a new autosomal dominant mutation may possibly be responsible. The disorder has an ominous prognosis since the neonates usually die in the first hours or days of life. We reported here; a case of harlequin fetus with a history of psoriasis in his father. Click Here For More
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