Harlequin ichthyosis: The third babies with harlequin ichthyosis in a family.

A female baby who was born by normal vaginal delivery with a birth weight of 2 600 g at the 34th gestational age as the third living baby from the fifth pregnancy of a 32-year old woman was admitted to the neonatal intensive care unit. No consanguineous marriage was reported in the familial history. It was learned that the patient had a healthy brother and a sister, but her two sisters were lost in the neonatal period because of HI. It was learned that these babies were born by normal vaginal delivery from the first and third pregnancies of the mother and they could live only for 18 and 3 days, respectively. The mother did not carry risk factors including hypertension and diabetes mellitus in this pregnancy and her previous pregnancies and did not have any pyretic disease. Although the family was recommended to receive genetic counselling, since they lost their two children because of HID previously, they did not receive genetic counselling and the mother did not attend follow-up visits during this last pregnancy. On physical examination of the patient, yellow-white thick plaques seperated from each other with deep clefts which appeared like a shield wrapping the skin surface tightly were obsreved (Figure 1). Severe ectropion was observed in the eyes and eclabium was observed in the lips (Figure 2). The auricles were not developed, the external auditory canal could not be observed bilaterally, the ears and nose appeared hypoplasic, only the vibrissa could be observed. Fish mouth finding was present. The hands and feet were hypoplasic and necrotic towards the ends. There were contractures in the extremities (Figure 3). Complete blood count findings were as follows WBC: 17 500/ mm3, hematocrit: 53% and platelets: 286 000/mm3. Biochemical tests were found to be normal. The patient whose respiration was normal was placed in a humidified incubator and intensive fluid treatment was started by venous catheter. The skin was humidified with frequent vaseline applications. The body temperature was monitored closely. Ampicillin and amikacin treatment was started after obtaining blood culture samples. Oral retinoid treatment was started at a dose of 1 mg/kg/day. The patient was fed orally by orogastric route from the first day. Despite intensive fluid treatment and enteral feeding in the follow-up, marked weight loss developed. The patient was lost on the 8th day because of sepsis despite appropriate antibiotic treatment and compliance with hygiene rules.