Obstetric Anesthesia for Harlequin Ichthyosis: A Unique Challenge Thea Rosenbaum, MD,* Eric R. Rosenbaum, MD, MPH,† Kristen L. Lienhart, MD,* and Andrea I. Choate, MD* Harlequin ichthyosis (HI) is a rare disorder of defective lipid transport resulting in severe epidermal hyperkeratosis producing large plate-like scales. Although mortality is high, improved treatments have allowed some with HI to survive into their third and fourth decades. However, until this case, there have been no known reports of pregnancy followed by birth of a healthy neonate to a mother with HI. We report one of the only approximately 25 known current HI survivors worldwide unique in having carried a pregnancy to full term and outline challenges for the anesthesiologist during labor and delivery. (A&A Case Reports. 2015;4:19–21.)
H
arlequin ichthyosis (HI) is an autosomal recessive congenital ichthyosis, a condition caused by mutation of the ABCA12 gene resulting in impaired lipid transport.1–4 Diagnosis of HI, however, is made clinically at birth and manifests phenotypically as epidermal hyperkeratosis with large polygonal plate-like scaling of the skin that cracks and can slough.5,6 Other features include ectropion, eclabium, hypoplasia of fingers, malformation of the ears and nose, and alopecia.5,7 Affected neonates often do not survive and mortality is commonly attributed to respiratory failure and/or sepsis5,8; however, early introduction of oral retinoids and emollients may improve survival.5,9,10 Survivors beyond infancy may suffer other sequelae, including recurrent skin infections from epidermal fissuring, contractures due to hyperkeratosis, metabolic abnormalities, and developmental delay.5 We describe the first known case of pregnancy in HI followed by the birth of a healthy neonate and outline challenges posed to the anesthesiologist. Because of the rarity of this condition, the patient gave IRB-approved informed consent for publication of this case.
CASE DESCRIPTION
A 20-year-old G1P0 parturient with HI presented for induction at 39 weeks 6 days due to suspected fetal macrosomia. The patient was diagnosed with HI clinically at birth by skin findings present on physical examination. Her surgical history was significant for uncomplicated laparoscopic appendectomy in 2007. Prenatal care was provided by her obstetrician with her dermatologist. Pregnancy was uneventful and did not affect the intensity or severity of disease other than causing moderate abdominal skin pain from abdominal expansion, which did not require analgesics. When we discussed this with the patient, her subjective From the *Department of Anesthesiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas; and †Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, Arkansas. Accepted for publication September 5, 2014. Funding: None. The authors declare no conflicts of interest. Address correspondence to Thea Rosenbaum, MD, Department of Anesthe siology, University of Arkansas for Medical Sciences, 4301 W. Markham St., #515, Little Rock, AR. Address e-mail to [email protected]. Copyright © 2015 International Anesthesia Research Society DOI: 10.1213/XAA.0000000000000113
January 15, 2015 • Volume 4 • Number 2
description of the pain was “my skin hurt over my belly as I got bigger, but it wasn’t a big deal.” Medications included prenatal vitamins and Aquaphor® ointment using her routine daily total-body-surface application. Physical examination was significant for common findings in classic adult HI, including diffuse red scaly skin with fissuring, poorly developed ears with thickened hyperkeratotic scales, ectropion, eclabium, and alopecia. Oral cavity and airway examination revealed Mallampati 2, thyromental distance >3 cm, and xerostomia. Her vital signs were stable. Her weight was 63.5 kg (54 kg prepregnancy) and height 160 cm. Uterine ultrasound at 32 weeks by last menstrual period revealed fetal macrosomia with no other abnormalities. The complete blood count panel 2 days before the scheduled induction of labor was normal. Obtaining peripheral IV access was uncomplicated; however, securing it was difficult because tape would not adhere to the hyperkeratotic, ointment-covered skin. This was solved by securing the peripheral IV catheter using gauze wrapped circumferentially around the catheter. The anesthesia service was consulted for epidural analgesia. Examination of the lumbar back revealed scaly hyperkeratotic skin with fissures; however, this did not affect palpating an appropriate intervertebral space for epidural catheter placement. There were no localized signs of infection. The site was cleaned with ChloraPrep® (2% alcoholic chlorhexidine) and locally anesthetized with 3 mL 1% lidocaine injected intra- and subdermally. The epidural catheter was inserted without difficulty at the L3–L4 level; however, the catheter could not be secured with tape so gauze wrap was used to prevent dislodgment by wrapping the gauze circumferentially around the abdomen. A similar technique was described in a patient with a nonharlequin-type ichthyosis by Smart and Bradshaw,11 who noted that taping the catheter to skin was ineffective with subsequent catheter dislodgment and skin damage. They solved this by securing the epidural catheter with a crepe bandage circumferentially wrapped about the abdomen and over the shoulder. For future cases, suturing the epidural catheter in place or tunneling the catheter is worth consideration. The level of sensory analgesia was confirmed to the T8 level using cold touch technique to avoid potential skin damage from other common sensory assessment methods (e.g., pinprick). Skin condition did not seem to affect the ability to determine sensory level. Analgesia was maintained at cases-anesthesia-analgesia.org
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the T8 level bilaterally throughout the entire course of labor. After achieving a cervical dilation of 7 cm, dilation arrested despite almost 24 hours of adequate contractions. Because of arrest and suspected cephalopelvic disproportion, primary cesarean delivery was pursued. In the operating room (OR), electrocardiogram and electrocautery ground pads failed to adhere due to a combination of scaly skin and use of Aquaphor® ointment. This was overcome by placing extra lubricant under the pads to maximize skin contact and securing the pads with gauze wrap to prevent displacement. Electrocardiogram readings were conducted appropriately. The blood pressure cuff, initially placed in the usual manner, was reapplied with gauze wrapped loosely under the cuff for cushioning. Cycling was reduced to every 5 minutes because of skin trauma induced by the usual placement. After standard ASA monitors were placed, oxygen was administered via facemask. An anesthetic solution of 20 mL 2% lidocaine and 100 mcg fentanyl was administered through the epidural catheter in 5-mL increments. Because cesarean delivery was nonemergent, it was decided to avoid any medications (i.e., epinephrine) that could have potential side effects. However, initial efforts to extend epidural analgesia to anesthesia failed due to block asymmetry, achieving a T3 level block on the right but only a T12 on the left. It is possible that addition of epinephrine or another analgesic adjuvant (e.g., clonidine) may have resulted in improved bilateral block density; however, on the basis of the systematic review by Hillyard et al.,12 there are insufficient data to support any best combination for epidural extension of analgesia to anesthesia. Use of 2% lidocaine without epinephrine would not be our usual practice in an emergent cesarean delivery. Because epidural anesthesia was not sufficient for cesarean delivery, alternative neuraxial anesthetics were considered but rejected because the T3 level block on one side gave concern for potential high or total spinal. Thus, given the favorable airway examination, we determined general anesthesia was most appropriate. Rapid-sequence induction was initiated with cricoid pressure using 150 mg propofol and 30 mg rocuronium. Since the patient would be recovering postoperatively in an obstetric ward, potential prolonged muscle weakness from the neuromuscular blocking drug was a concern. Accordingly, only 30 mg rocuronium (
H
arlequin ichthyosis (HI) is an autosomal recessive congenital ichthyosis, a condition caused by mutation of the ABCA12 gene resulting in impaired lipid transport.1–4 Diagnosis of HI, however, is made clinically at birth and manifests phenotypically as epidermal hyperkeratosis with large polygonal plate-like scaling of the skin that cracks and can slough.5,6 Other features include ectropion, eclabium, hypoplasia of fingers, malformation of the ears and nose, and alopecia.5,7 Affected neonates often do not survive and mortality is commonly attributed to respiratory failure and/or sepsis5,8; however, early introduction of oral retinoids and emollients may improve survival.5,9,10 Survivors beyond infancy may suffer other sequelae, including recurrent skin infections from epidermal fissuring, contractures due to hyperkeratosis, metabolic abnormalities, and developmental delay.5 We describe the first known case of pregnancy in HI followed by the birth of a healthy neonate and outline challenges posed to the anesthesiologist. Because of the rarity of this condition, the patient gave IRB-approved informed consent for publication of this case.
CASE DESCRIPTION
A 20-year-old G1P0 parturient with HI presented for induction at 39 weeks 6 days due to suspected fetal macrosomia. The patient was diagnosed with HI clinically at birth by skin findings present on physical examination. Her surgical history was significant for uncomplicated laparoscopic appendectomy in 2007. Prenatal care was provided by her obstetrician with her dermatologist. Pregnancy was uneventful and did not affect the intensity or severity of disease other than causing moderate abdominal skin pain from abdominal expansion, which did not require analgesics. When we discussed this with the patient, her subjective From the *Department of Anesthesiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas; and †Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, Arkansas. Accepted for publication September 5, 2014. Funding: None. The authors declare no conflicts of interest. Address correspondence to Thea Rosenbaum, MD, Department of Anesthe siology, University of Arkansas for Medical Sciences, 4301 W. Markham St., #515, Little Rock, AR. Address e-mail to [email protected]. Copyright © 2015 International Anesthesia Research Society DOI: 10.1213/XAA.0000000000000113
January 15, 2015 • Volume 4 • Number 2
description of the pain was “my skin hurt over my belly as I got bigger, but it wasn’t a big deal.” Medications included prenatal vitamins and Aquaphor® ointment using her routine daily total-body-surface application. Physical examination was significant for common findings in classic adult HI, including diffuse red scaly skin with fissuring, poorly developed ears with thickened hyperkeratotic scales, ectropion, eclabium, and alopecia. Oral cavity and airway examination revealed Mallampati 2, thyromental distance >3 cm, and xerostomia. Her vital signs were stable. Her weight was 63.5 kg (54 kg prepregnancy) and height 160 cm. Uterine ultrasound at 32 weeks by last menstrual period revealed fetal macrosomia with no other abnormalities. The complete blood count panel 2 days before the scheduled induction of labor was normal. Obtaining peripheral IV access was uncomplicated; however, securing it was difficult because tape would not adhere to the hyperkeratotic, ointment-covered skin. This was solved by securing the peripheral IV catheter using gauze wrapped circumferentially around the catheter. The anesthesia service was consulted for epidural analgesia. Examination of the lumbar back revealed scaly hyperkeratotic skin with fissures; however, this did not affect palpating an appropriate intervertebral space for epidural catheter placement. There were no localized signs of infection. The site was cleaned with ChloraPrep® (2% alcoholic chlorhexidine) and locally anesthetized with 3 mL 1% lidocaine injected intra- and subdermally. The epidural catheter was inserted without difficulty at the L3–L4 level; however, the catheter could not be secured with tape so gauze wrap was used to prevent dislodgment by wrapping the gauze circumferentially around the abdomen. A similar technique was described in a patient with a nonharlequin-type ichthyosis by Smart and Bradshaw,11 who noted that taping the catheter to skin was ineffective with subsequent catheter dislodgment and skin damage. They solved this by securing the epidural catheter with a crepe bandage circumferentially wrapped about the abdomen and over the shoulder. For future cases, suturing the epidural catheter in place or tunneling the catheter is worth consideration. The level of sensory analgesia was confirmed to the T8 level using cold touch technique to avoid potential skin damage from other common sensory assessment methods (e.g., pinprick). Skin condition did not seem to affect the ability to determine sensory level. Analgesia was maintained at cases-anesthesia-analgesia.org
19
the T8 level bilaterally throughout the entire course of labor. After achieving a cervical dilation of 7 cm, dilation arrested despite almost 24 hours of adequate contractions. Because of arrest and suspected cephalopelvic disproportion, primary cesarean delivery was pursued. In the operating room (OR), electrocardiogram and electrocautery ground pads failed to adhere due to a combination of scaly skin and use of Aquaphor® ointment. This was overcome by placing extra lubricant under the pads to maximize skin contact and securing the pads with gauze wrap to prevent displacement. Electrocardiogram readings were conducted appropriately. The blood pressure cuff, initially placed in the usual manner, was reapplied with gauze wrapped loosely under the cuff for cushioning. Cycling was reduced to every 5 minutes because of skin trauma induced by the usual placement. After standard ASA monitors were placed, oxygen was administered via facemask. An anesthetic solution of 20 mL 2% lidocaine and 100 mcg fentanyl was administered through the epidural catheter in 5-mL increments. Because cesarean delivery was nonemergent, it was decided to avoid any medications (i.e., epinephrine) that could have potential side effects. However, initial efforts to extend epidural analgesia to anesthesia failed due to block asymmetry, achieving a T3 level block on the right but only a T12 on the left. It is possible that addition of epinephrine or another analgesic adjuvant (e.g., clonidine) may have resulted in improved bilateral block density; however, on the basis of the systematic review by Hillyard et al.,12 there are insufficient data to support any best combination for epidural extension of analgesia to anesthesia. Use of 2% lidocaine without epinephrine would not be our usual practice in an emergent cesarean delivery. Because epidural anesthesia was not sufficient for cesarean delivery, alternative neuraxial anesthetics were considered but rejected because the T3 level block on one side gave concern for potential high or total spinal. Thus, given the favorable airway examination, we determined general anesthesia was most appropriate. Rapid-sequence induction was initiated with cricoid pressure using 150 mg propofol and 30 mg rocuronium. Since the patient would be recovering postoperatively in an obstetric ward, potential prolonged muscle weakness from the neuromuscular blocking drug was a concern. Accordingly, only 30 mg rocuronium (
