Perinatal management of harlequin ichthyosis: A case report and literature review

Journal of Perinatology

Volumn 30, Issue 1, 2010, Pages 66-72

  Harvey, H B ^a   Shaw, M G ^a   Morrell, D S ^a  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

Harlequin ichthyosis; Management; Neonatal; Retinoid

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER A12; AMPICILLIN; ARTIFICIAL TEAR; ERYTHROMYCIN; ETRETIN; FENTANYL; FLUCONAZOLE; GENTAMICIN; IMMUNOGLOBULIN; KERATIN; PENICILLIN V POTASSIUM; PETROLATUM; TAZAROTENE; TOBRAMYCIN; UNCLASSIFIED DRUG; VANCOMYCIN;

ANTIBIOTIC SENSITIVITY; APGAR SCORE; ARTICLE; CANDIDA ALBICANS; CASE REPORT; CESAREAN SECTION; COAGULASE NEGATIVE STAPHYLOCOCCUS; CONDUCTION DEAFNESS; CONJUNCTIVITIS; DESQUAMATION; DISEASE SEVERITY; DRUG DOSE REDUCTION; DYSKERATOSIS; ECHOCARDIOGRAPHY; ECTROPION; GENE DELETION; GENE MUTATION; GENETIC LINKAGE; HARLEQUIN ICHTHYOSIS; HUMAN; HYPERKERATOSIS; ICHTHYOSIS; IMMUNOGLOBULIN DEFICIENCY; INFECTION SENSITIVITY; KERATINOCYTE; KERATITIS; KLEBSIELLA OXYTOCA; MALE; MEDICAL LITERATURE; NEWBORN; NEWBORN INTENSIVE CARE; NEWBORN SEPSIS; OCCUPATIONAL THERAPY; PAIN; PATENT FORAMEN OVALE; PATIENT CARE; PATIENT MONITORING; PHENOTYPE; PHYSIOTHERAPY; PROGNOSIS; TOTAL PARENTERAL NUTRITION; TREATMENT PLANNING;

ACITRETIN; CHILD, PRESCHOOL; COMBINED MODALITY THERAPY; ECTROPION; HUMANS; ICHTHYOSIS, LAMELLAR; INFANT; INFANT, NEWBORN; KERATOLYTIC AGENTS; PHYSICAL THERAPY MODALITIES; REFERRAL AND CONSULTATION;

EID: 76849096300     PISSN: 07438346     EISSN: 14765543     Source Type: Journal    
DOI: 10.1038/jp.2009.100     Document Type: Article

References (33)

1. Akiyama M, Sugiyama-Nakagiri Y, Sakai K, McMillan JR, Goto M, Arital K et al. Mutations in ABCA12 in harlequin ichthyosis and functional rescue by corrective gene transfer. J Clin Invest 2005; 115: 1777-1784.
2. Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA et al. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet 2005; 76(5): 794-803.
3. Sakai K, Akiyama M, Sugiyama-Nakagiri Y, McMillan JR, Sawamura D, Shimizu H. Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes. Exp Dermatol 2007; 16(11): 920-926.
4. Elias PM, Williams ML, Holleran WM, Jiang YJ, Schmuth M. Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism. J Lipid Res 2008; 49(4): 697-714.
5. Milner ME, O'Guin WM, Holbrook KA, Dale BA. Abnormal lamellar granules in harlequin's ichthyosis. J Invest Dermatol 1992; 99: 824-829.
6. Moskowitz DG, Fowler AJ, Heyman MB, Cohen SP, Crumrine D, Elias PM et al. Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure. J Pediatr 2004; 145: 82-92.
7. Williams ML. Neonatal phenotypes in the ichthyoses. Ped Derm 2004; 21(3): 308-309.
8. Akiyama M. Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases. Arch Dermatol 2006; 142: 914-918.
9. Prasad RS, Pejaver RK, Hassan A, al Dusari S, Wooldridge MA. Management and follow-up of harlequin siblings. Br J Dermatol 1994; 130(5): 650-653.
10. Grunau RE, Holsti L, Haley DW, Oberlander T, Weinberg J, Solimano A et al. Neonatal procedural pain exposure predicts lower cortisol and behavioral reactivity in preterm infants in the NICU. Pain 2005; 113: 293-300.
11. Grunau RE, Whitfield MF, Fay T, Holsti L, Oberlander T, Rogers ML. Biobehavioural reactivity to pain in preterm infants: a marker of neuromotor development. Dev Med Child Neuro 2006; 48: 471-476.
12. Anand KJ, Hall RW. Controversies in neonatal pain: an introduction. Semin Perinatol 2007; 31: 273-274.
13. Ergün O, Celik A, Ergün G, Ozok G. Prophylactic antibiotic use in pediatric burn units. Eur J Pediatr Surg 2004; 14(6): 422-426.
14. Sheridan RL, Weber JM, Pasternack MS, Tompkins RG. Antibiotic prophylaxis for group A streptococcal burn wound infection is not necessary. J Trauma 2001; 51(2): 352-355.
15. Ugburo AO, Atoyebi OA, Oyeneyin JO, Sowemimo GO. An evaluation of the role of systemic antibiotic prophylaxis in the control of burn wound infection at the Lagos University Teaching Hospital. Burns 2004; 30(1): 43-48.
16. Gunes T. Harlequin baby with ecythma gangrenosum. Ped Derm 2003; 20(6): 529-530.
17. Desai MH, Rutan RL, Heggers JP, Herndon DN. Candida infection with and without nystatin prophylaxis. A 11-year experience with patients with burn injury. Arch Surg 1992; 127(2): 159-162.
18. Sheridan RL, Weber JM, Budkevich LG, Tompkins RG. Candidemia in the pediatric patient with burns. J Burn Care Rehabil 1995; 16(4): 440-443.
19. O'Grady MJ, Dempsey EM. Antifungal prophylaxis for the prevention of neonatal candidiasis? Acta Paediatr 2008; 97(4): 430-433.
20. Lacour M, Mehta-Nikhar B, Atherton DJ, Harper JI. An appraisal of acitretin therapy in children with inherited disorders of keratinization. Br J Dermatol 1996; 134(6): 1023-1029.
21. Katugampola RP, Finlay AY. Oral retinoid therapy for disorders of keratinization: single-centre retrospective 25 years' experience on 23 patients. Br J Dermatol 2006; 154(2): 267-276.
22. Ingen-Housz-Oro S, Boudou P, Bergot C, Ibrahim F, Souberbielle JC, Dubertret L et al. Evidence of a marked 25-hydroxyvitamin D deficiency in patients with congenital ichthyosis. J Eur Acad Dermatol Venereol 2006; 20(8): 947-952.
23. Chan YC, Tay YK, Tan LK, Happle R, Giam YC. Harlequin ichthyosis in association with hypothyroidism and juvenile rheumatoid arthritis. Pediatr Dermatol 2003; 20(5): 421-426.
24. Anderson GC, Moore E, Hepworth J, Bergman N. Early skin-to-skin contact for mothers and their healthy newborn infants. Cochrane Database Syst Rev 2003; (2): CD003519.
25. Forcada-Guex M, Pierrehumbert B, Borghini A, Moessinger A, Muller-Nix C. Early dyadic patterns of mother-infant interactions and outcomes of prematurity at 18 months. Pediatrics 2006; 118(1): e107-e114.
26. Layton J. A review of harlequin ichthyosis. Neonatal Netw 2005; 24(3): 17-23.
27. Rajpar SF, Cullup T, Kelsell DP, Moss C. A novel ABCA12 mutation underlying a case of Harlequin ichthyosis. Br J Dermatol 2006; 155(1): 204-206.
28. Singh S, Bhura M, Maheshwari A, Kumar A, Singh CP, Pandey SS. Successful treatment of harlequin ichthyosis with acitretin. Int J Dermatol 2001; 40(7): 472-473.
29. Mukhopadhyay S, Agarwal R. Harlequin ichthyosis. Indian J Pediatr 2006; 73(4): 351.
30. Ward PS, Jones RD. Successful treatment of a harlequin fetus. Arch Dis Child 1989; 64(9): 1309-1311.
31. Lawlor F, Peiris S. Progress of a harlequin fetus treated with etretinate. J R Soc Med 1985; 78(Suppl 11): 19-20. (Pubitemid 16181627)
32. Haftek M, Cambazard F, Dhouailly D, Réano A, Simon M, Lachaux A et al. A longitudinal study of a harlequin infant presenting clinically as non-bullous congenital ichthyosiform erythroderma. Br J Dermatol 1996; 135(3): 448-453.
33. Roberts LJ. Long-term survival of a harlequin fetus. J Am Acad Dermatol 1989; 21: 335-339.