Skin manifestations and the clinical course observed in our harlequin ichthyosis patient. (A) An opaque white membrane with erosion over the wholebody skin except over the lips, was noted on the first day. (B) A linear incision of fasciotomy was performed on the right sole for ischemic change in the right toes on the 4th day after birth. (C) The capsulelike membranes had peeled off and only a scale-like membrane covered the body at the 13th day after birth. (D, E) Her skin had improved around 4 months of age, and the membrane that had been covering her skin changed into a thin-scaled hyperkeratosis.

Contexts in source publication

Context 1

... and club hands were suspected, but no other anatomic abnormality was noted. Upon delivery, her whole-body skin was covered with an opaque white membrane with erosion. In particular, except for the lips, her entire face and ears were covered with a milk-like thick skin patch. Ectropion was observed in both eyes, but eclabium was not observed (Fig. 1A). Both hands and feet were encased by a thick membrane that looked like white bullae, with a slight tear on the heels and palms. Partial syndactyly of the right hand and right foot was ...

Context 2

... the 4th day after birth, her right toes turned dark brown as a result of reduced blood circulation due to contraction of the ichthyosis membrane. Emergent capsulotomy of the right sole was performed to relieve ischemia, after which toe color was recovered (Fig. 1B). The ichthyosis covering the whole body gradually peeled off, and approximately 20% of the membrane remained at two weeks after birth. A thin scaling was finally remained, and her ectropion had improved. The capsule-like bullae on the left toes and both hands also detracted without surgical intervention (Fig. 1C). The patient was ...

Context 3

... which toe color was recovered (Fig. 1B). The ichthyosis covering the whole body gradually peeled off, and approximately 20% of the membrane remained at two weeks after birth. A thin scaling was finally remained, and her ectropion had improved. The capsule-like bullae on the left toes and both hands also detracted without surgical intervention (Fig. 1C). The patient was discharged on the 27th day after birth with maintenance of skin moisturizer and emollient application. We thus planned a surgery for partial syndactyly ...

Context 4

... confirmed as having HI with compound heterozygous mutations of the ABCA12 gene (Fig. 2). She took oral retinoic acid at an outpatient clinic for up to 2 months of age and had no side effects, such as an increase in liver enzymes. No aggravation of skin lesions was observed even after discontinuation of retinoic acid during 12 months of follow up (Fig. 1D, E). The patient also had no skin infection. She began eating baby food at six months of age and was easily consuming breast milk and powdered milk formula. She has been growing by a 10th to 50th percentile of body weight and a 3rd percentile of height according to the 2017 Korean National Growth Chart for children and adolescents. By the ...