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.