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Dr Nga is a third-year neonatology fellow at Vidant Medical Center/East Carolina University, Greenville, North Carolina.
Dr Peedin is neonatology attending at Vidant Medical Center/East Carolina University, Greenville.
Dr Naylor is clinical associate professor of Pediatrics, Brody School of Medicine at East Carolina University, Greenville.
After a cesarean delivery at 30 weeks, a 1430-gram premature female neonate was noted to have generalized thick, dark brown scale forming a tight membrane over her entire skin surface. Her mother was a healthy 19-year-old gravida 1 with normal prenatal screening ultrasound and laboratory studies. Family history did not reveal any congenital malformations or genetic disorders.
After a cesarean delivery at 30 weeks, a 1430-gram premature female neonate was noted to have generalized, thick, dark brown scale forming a tight membrane over her entire skin surface (Figure 1). Her mother was a healthy 19-year-old gravida 1 with normal prenatal screening ultrasound and laboratory studies. Family history did not reveal any congenital malformations or genetic disorders.
On physical examination in the delivery room, the neonate was vigorous with normal vital signs. Apgar scores were 8 and 9 at 1 and 5 minutes of life. Detailed examination on admission to the neonatal intensive care unit (NICU) showed that in addition to the skin findings, she also had ectropion, eclabium, malformed ears, and contractures of the extremities (Figure 2). The patient’s abdominal and cardiac exams were normal. A clinical diagnosis of ichthyosis with a collodion membrane was made.
The patient was placed in an isolette with a relatively high humidity because of concern for transepidermal water loss. An umbilical venous catheter (UVC) was inserted for administration of fluid and medication as needed. A post-UVC insertion abdominal x-ray done to confirm position of the UVC revealed a double “bubble” appearance indicating a clinical diagnosis of duodenal atresia (Figure 3). An immediate consultation with Pediatric Surgery was done for evaluation and repair of the duodenal atresia. Dermatology was consulted at day 1 of life to help with skin management.
Generalized scaling and thickening of the skin can be caused by a variety of disorders (Table). These could be congenital or acquired. Congenital Ichthyosis could be associated with collodion membrane as seen in this patient.1 These conditions include lamellar ichthyosis (LI), harlequin ichthyosis, congenital ichthyosiform erythroderma, Sjögren-Larssen syndrome, Netherton syndrome, and epidermolytic hyperkeratosis.2,3
Other causes of diffuse scaling include nutritional deficiencies that are usually acquired such as acrodermatitis enteropathica, which is associated with zinc deficiency; hypohidrotic ectodermal dysplasia; metabolic disease such as Gaucher disease; neutral lipid storage disease; adverse effects of some medications; and asteatotic dermatitis and eczema.4,5
Unlike generalized scaling of the skin that has varying causes, the radiographic finding of double bubble appearance is pathognomonic of duodenal atresia, which requires prompt surgical intervention.
Congenital ichthyoses are rare skin disorders with an average incidence of 6.7 in 100,000.6 The epidemiology varies based on the type of ichthyosis, from the common forms such as recessive X-linked ichthyosis (1:6,000) to a rare autosomal recessive congenital ichthyosis (1:300,000) and other extremely rare forms.7
Congenital ichthyoses are a clinically and genetically heterogeneous group of Mendelian disorders. They encompass a wide range of monogenic keratinizing disorders with different etiologies and may be associated with systemic symptoms. Ichthyoses are attributed to mutations of several genes that code for proteins and lipids, which are involved in different stages of cornification. Common involved genes include transglutaminase 1 (TGM1), arachidonate 12-lipoxygenase (ALOXE12B), arachidonate lipoxygenase 3 (ALOX3), and ATP-binding cassette transporter 12 (ABCA12).8
These mutations lead to a spectrum of phenotypes, ranging from the fatal harlequin ichthyosis (some of these children survive with oral retinoids) to less severe disorders such as lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). Defects in cornification lead to defects in barrier function, dramatic transepidermal water loss, and a risk of fluid and electrolyte abnormalities, thermoregulatory dysfunction, and increased risk of infection.9
Genetic testing in this patient revealed a mutation in the ABCA12 gene typical of LI. Characteristic findings include brown, plate-like scale on a nonerythematous base, ectropion (eversion of eyelids), eclabium (eversion of lips), and crumpled ears,10 as was found in the patient. However, she also had duodenal atresia, which has never been reported as an associated finding in LI.
To the best of the authors’ knowledge, this is the first report of an association of congenital duodenal atresia with LI.
Duodenal atresia results from failure of recanalization of the duodenum after the seventh week of gestation perhaps from an ischemic event or genetic factors.10 Duodenal atresia has a reported incidence of approximately 0.9 per 10,000.11 Unlike other intestinal atresia, it’s commonly associated with other congenital anomalies (eg, Down syndrome, which accounts for 25% to 40% of cases of duodenal atresia).12 Other associated anomalies include VATER (vertebral defects, anal anomalies, tracheoesophageal atresia, and renal abnormalities), malrotation, annular pancreas, biliary tract abnormalities, cardiac, and mandibulofacial anomalies.
The initial manifestation of duodenal atresia could be polyhydramnios because of the neonate’s inability to swallow and absorb the amniotic fluid. About 80% of duodenal atresia cases will have polyhydramnios11; this patient did not. A double bubble sign is the classic finding on a plain radiograph of the abdomen attributed to dilated proximal duodenum and stomach associated with lack of bowel gas in the distal intestine.13 The patient needs surgical repair via laparotomy or laparoscopy once clinically stabilized.14 Infants with duodenal atresia have a good long-term prognosis with survival rates approaching 90%.15
It is important to remember that congenital ichthyoses can be associated with other anomalies. Although rare, duodenal atresia with malrotation can occur. Any gastrointestinal symptoms should prompt evaluation for this defect.
The neonate was placed in the isolette with 80% humidity and a regulated ambient temperature. Lubricant was applied to her entire skin and eyes daily as recommended by the dermatologist and ophthalmologist. Nutrition was adequately maintained with the help of the nutritionist. Frequent electrolyte panels were checked to evaluate for fluid and electrolyte abnormalities, and the NICU policy of handwashing and wearing gloves was strictly observed. Daily rehabilitative care by physical and occupational therapists was performed to decrease the risk for contractures.
The patient also had an uncomplicated duodenostomy, Ladd procedure, and appendectomy because of an intraoperative finding of duodenal obstruction and malrotation.
Interdisciplinary care cannot be overemphasized in the management of complex skin disorders, and this should be ordered by any general pediatrician in order to achieve a better outcome. If the neonate is delivered in a hospital with a lower level of care, humidity, thermoregulation, skin barrier maintenance, and fluids and electrolytes balance are imperative. Prior to transfer, fluid and electrolyte balance should be maintained with the use of parenteral fluids. Serum electrolytes, urine output, and daily weights should be closely monitored. Careful management will minimize morbidity and mortality before transfer to a unit with a higher level of care.
Although this patient was gaining and growing well on discharge, her skin was still diffusely dry and scaly. The congenital collodion membrane that covered her entire skin at birth desquamated by 3 weeks of age. Outpatient follow-up was scheduled with the multidisciplinary team. No complications or other medical problems were noted before her discharge from the NICU.
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15. Bonafé L, Mittaz-Crettol L, Ballhausen D, Superti-Furga A. Diastrophic dysplasia. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews [Internet]. Seattle, WA: University of Washington; 1993-2017. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1350/. Posted November 15, 2004. Updated July 18, 2013. Accessed January 17, 2017.
Dr Nga is a third-year neonatology fellow at Vidant Medical Center/East Carolina University, Greenville, North Carolina. Dr Peedin is a pediatrician and neonatologist, Brody School of Medicine at East Carolina University, Greenville. Dr Naylor is clinical associate professor of Pediatrics, Brody School of Medicine at East Carolina University, Greenville. The authors have nothing to disclose in regard to affiliation with or financial interests in any organizations that may have an interest in any part of this article.