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