D Gurses, I Kilic, M Baskan

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.

Introduction Harlequin fetus is the most severe form of congenital ichthyosis ( 1 ). The earliest record of its description is from the Oliver Hart in 1750 ( 2 ). Since then it has been referred to as “fetal ichthyosis”, “ichthyosis intrauterina”, “keratosis diffusa fetalis”, “congenital diffuse maligna keratoma”, “malignant keratosis”, “alligator baby” ( 3 ). The disorder has an ominous prognosis, and affected babies usually die within the first days to weeks of life (1, 4 ). The disorder is being presented here because of its extreme rarity and a history of psoriasis in his father.

Case Report An hour-old male infant was referred to Pamukkale University Hospital. He was born at 35-36 weeks gestation to a gravida I para 0, following a normal pregnancy. The parents were not relatives. The mother was 21 years old and the father was 23 years old. His father had psoriasis diagnosed a year ago. Physical examination revealed an infant weighing 1700 g. The patient’s temperature was 35(C, pulse rate 110/min, and respiratory rate 40/min. The 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 (Fig. 1). Figure 1 Figure 1: The patient showing ectropion, eclabium and thickened skin with deep fissures There was a small penis, undescended testes, and a rudimentary scrotum. The limbs were in a semiflexed position and had limited mobility (Fig. 2). Figure 2 Figure 2: The patient with small testes and rudimentary scrotum He had 60( flexion contractures at elbows and knees and no limitation in the movement at the wrist. Restricted abduction in the hip joint. 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 (Fig. 3). The rest of the physical findings were unremarkable. Figure 3 Figure 3: Edematous hands and clenched in a flexed position Laboratory findings included hemoglobin 15.1 g/dl, white blood cell count 10700/mm3, platelet count 192000/mm3, creatinin 0.6 mg/dl, Na 128 mEq/L, K 3.1 mEq/L, Cl 101 mEq/L, AST 9 U/L, ALT 12 U/L. Immediately after transfer to our neonatal intensive care unit, the baby was nursed in a humidified incubator maintained at 33(C. As peripheral venous access was difficult, an umbilical venous line was set up. An extra 25% allowance was provided for fluid and calorie requirements from the first day. After taking appropriate cultures, antibiotics were commenced in order to prevent infection. Vaseline containing five percent lactic acid and local antiseptics were applied topically. Ectropion was covered with eye pads soaked in saline. Initially progress was slow. The plate like scales split and peeled off revealing glazed and erythematous skin underneath. There were necrotic areas on the tips of the fingers. He did not tolerate oral or N/G feeding and parenteral route for nutrition was used. His temperature was 38(C on the 16th day of admission. He was investigated for possible sites of sepsis. Twenty-one days after admission he had a cardiorespiratory arrest. A post-mortem examination could not be conducted. No micro-organisms grew in the cultures.