Tight, shiny membrane encases newborn’s skin
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
Etiology and pathophysiology
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.
Treatment and management
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.
1. Srivastava P, Srivastava A, Srivastava P, Betigeri AV, Verma M. Congenital ichthyosis—collodion baby case report. J Clin Diagn Res. 2016;10(6):SJ01-SJ02.
2. Mazereeuw-Hautier J, Dreyfus I, Corset I, Leclerc-Mercier S, Jonca N, Bodemer C. The collodion baby [article in French]. Ann Dermatol Venereol. 2016;143(3):225-229.
3. Takeichi T, Akiyama M. Inherited ichthyosis: non-syndromic forms. J Dermatol. 2016;43(3):242-251.
4. Eckl KM, Tidhar R, Thiele H, et al. Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. J Invest Dermatol. 2013;133(9):2202-2211.
5. Aradhya SS, Srinivas SM, Hiremagalore R, Shanmukappa AG. Clinical outcome of collodion baby: a retrospective review. Indian J Dermatol Venereol Leprol. 2013;79(4):553.
6. Bayhan IA, Er MS, Nishnianidze T, et al. Gait pattern and lower extremity alignment in children with diastrophic dysplasia. J Pediatr Orthop. 2016;36(7):709-714.
7. Chiruvolu A, Tolia VN, Qin H, et al. Effect of delayed cord clamping on very preterm infants. Am J Obstet Gynecol. 2015;213(5):676.e1-676.e7.
8. Dabas A, Khadgawat R. Diastrophic dysplasia—variant. Indian Pediatr. 2014;51(2):161.
9. Katheria AC, Truong G, Cousins L, Oshiro B, Finer NN. Umbilical cord milking versus delayed cord clamping in preterm infants. Pediatrics. 2015;136(1):61-69.
10. Zechi-Ceide RM, Moura PP, Raskin S, Richieri-Costa A, Guion-Almeida ML. A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia. Am J Med Genet A. 2013;161A(8):2088-2094.
11. Honório JC, Bruns RF, Gründtner LF, et al. Diastrophic dysplasia: prenatal diagnosis and review of the literature. Sao Paulo Med J. 2013;131(2):127-132.
12. Paladini D, Volpe P. Ultrasound of Congenital Fetal Anomalies: Differential Diagnosis and Prognostic Indicators. 2nd ed. Boca Raton, FL: CRC Press; 2014:277.
13. McKay SD, Al-Omari A, Tomlinson LA, Dormans JP. Review of cervical spine anomalies in genetic syndromes. Spine (Phila Pa 1976). 2012;37(5):E269-E277.
14. Weiner DS, Jonah D, Kopits S. The 3-dimensional configuration of the typical hip and knee in diastrophic dysplasia. J Pediatr Orthop. 2010;30(4):403-410.
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.