Case description
A female term newborn was born via spontaneous delivery to a 26-year old healthy gravida 1 para 1 woman. The mother received routine prenatal care with all prenatal laboratory and fetal ultrasound findings within normal limits. No consanguinity and no family history of skin disorders were reported. The birth weight was 3350 g, and the birth length could not be appropriately measured because of limited extension of the lower limbs. Apgar score was 9 and 10 at 1 and 5 minutes, respectively. At birth, the baby had a shiny, taut membrane that covered her entire body with multiple fissures and scaling (Figure 1). Additionally, bilateral ectropion, eclabium, hypotrichosis, flattening of the nose, and ears overlaying were present (Figure 2). The baby had claw hand deformity and pseudocontractures with limited range of motion in all joints. (Figure 3-4). There were no other congenital anomalies.
Initial laboratory investigations showed increased inflammatory parameters: WBC 29.9 x 109/l, CRP level of 84 mg/l (normal <5 mg/l) and low PLT 79 x 109/l and. Serum electrolytes, protein, albumin, blood urea nitrogen, and creatinine levels were monitored closely. The baby was placed in an incubator with humidity set at 70%. Antibiotic treatment with ampicillin and amikacin was provided while waiting for the blood culture result. Skin management included daily bathing with water and mild cleanser and frequent applications of emollients. Artificial tears were applied regularly. The daily time out of the incubator was gradually increased during the hospital stay in parallel with decreasing the incubator humidity to ambient air values. Temperature and fluid balance were monitored continuously. Desquamation of the whole body appeared at two weeks, leaving nearly normal-appearing skin. The patient was discharged after 18 days with advice for regular emollient application and follow-up. At the age of 2 months, the skin was completely normal except for minimal residual erythema and very few white scales on the trunk and extremities. After 8 years of follow-up until date, the patient had no lesions except minimal hyperkeratosis on the elbows and knees.