32
Views
0
CrossRef citations to date
0
Altmetric
Case Reports

Lessons to Learn About the Misdiagnosis of a Rare Case in China: Bart Syndrome or Carmi Syndrome?

ORCID Icon, ORCID Icon, ORCID Icon, ORCID Icon, ORCID Icon, ORCID Icon, ORCID Icon, ORCID Icon, ORCID Icon, ORCID Icon, ORCID Icon, ORCID Icon, ORCID Icon, ORCID Icon & ORCID Icon show all
Pages 487-495 | Received 05 Nov 2023, Accepted 19 Apr 2024, Published online: 18 May 2024

References

  • Mylonas KS, Meaghan H, Ko LN, et al. Clinical outcomes and molecular profile of patients with Carmi Syndrome: a systematic review and evidence quality assessment. J Pediatric Surg. 2018;S0022346818303671.
  • Swinburne LM, Kohler HG. Symmetrical congenital skin defects in sibs. Arch Dischildhood. 1968;43:498–499.
  • Carmi R, Sofer S, Karplus M, et al. Aplasia cutis congenita in two sibs discordant for pyloric atresia. Am J Med Genet. 1982;11(3):319–328. doi:10.1002/ajmg.1320110308
  • McKusick VA. Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders. Vol. 1. Baltimore, MD, USA: Johns Hopkins University Press; 1998.
  • Bardhan A, Bruckner-Tuderman L, Chapple ILC, et al. Epidermolysis bullosa. Nat Rev Dis Primers. 2020;6(1):78. doi:10.1038/s41572-020-0210-0
  • Raoufinia R, Rahimi HR, Keyhanvar N, et al. Advances in Treatments for Epidermolysis Bullosa (EB): emphasis on Stem Cell-Based Therapy. Stem Cell Rev Rep. 2024. doi:10.1007/s12015-024-10697-4
  • Hicks TD, Singh H, Mikhael M, Shah AR. Carmi Syndrome in a Preterm Neonate: a Multidisciplinary Approach and Ethical Challenge. Case Rep Pediatr. 2018;2018(11):4548194. doi:10.1155/2018/4548194
  • Martinez-Moreno A, Ocampo-Candiani J, Alba-Rojas E. Epidermolysis bullosa with congenital absence of skin: review of the literature. Pediatr Dermatol. 2020;37(5):821–826. doi:10.1111/pde.14245
  • Has C, Bauer JW, Bodemer C, et al. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br j dermatol. 2020;183(4):614–627. doi:10.1111/bjd.18921
  • Fine JD. Epidemiology of Inherited Epidermolysis Bullosa Based on Incidence and Prevalence Estimates From the National Epidermolysis Bullosa Registry. JAMA dermatol. 2016;152(11):1231–1238. doi:10.1001/jamadermatol.2016.2473
  • Lucky AW, Gorell E. Epidermolysis Bullosa with Pyloric Atresia. Adam MP, Eds. Seattle: GeneReviews®. University of Washington; 2008.
  • Al-Salem AH. Congenital pyloric atresia and associated anomalies. Pediatric Surg Int. 2007;23(6):559–563. doi:10.1007/s00383-007-1903-0
  • Chung HJ, Uitto J. Epidermolysis bullosa with pyloric atresia. Dermatologic Clinics. 2010;28(1):43–54. doi:10.1016/j.det.2009.10.005
  • Silberstein E, Pagkalos VA, Landau D, et al. Aplasia cutis congenita: clinical management and a new classification system. Plastic Reconstructive Surg. 2014;134(5):766e–774e. doi:10.1097/PRS.0000000000000638
  • Kulalı F, Bas AY, Kale Y, Celik IH, Demirel N, Apaydın S. Type VI Aplasia Cutis Congenita: bart’s Syndrome. Case rep dermatol med. 2015;2015:549825. doi:10.1155/2015/549825
  • Yang MY, Ha DL, Kim HS, Ko HC, Kim BS, Kim MB. Aplasia cutis congenita in Korea: single center experience and literature review. Pediatr Int. 2020;62(7):804–809. doi:10.1111/ped.14192
  • Bart BJ, Gorlin RJ, Anderson VE, Lynch FW. Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome. Arch Dermatol. 1966;93(3):296–304. doi:10.1001/archderm.1966.01600210032005
  • Rajpal A, Mishra R, Hajirnis K, Shah M, Nagpur N. Bart’s syndrome. Indian J Dermatol. 2008;53(2):88–90. doi:10.4103/0019-5154.41655
  • Fine JD, Bruckner-Tuderman L, Eady RA, et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014;70(6):1103–1126. doi:10.1016/j.jaad.2014.01.903
  • Tosto V, Herrero B, Illescas T, et al. (New) antenatal ultrasound signs of fetal junctional epidermolysis bullosa: a case report and systematic review of literature. Eur J Obstet Gynecol Reprod Biol. 2023;290:43–50. doi:10.1016/j.ejogrb.2023.08.379
  • Ksia A, Zitouni H, Zrig A, et al. Pyloric atresia: a report of ten patients. Afr J Paediatr Surg. 2013;10(2):192–194. doi:10.4103/0189-6725.115054