Document Type : case report
Authors
- Homa Babaei 1
- Pourang Mohammadi 2
- khadijeh Ramezani-Ali Akbari 3
- Soudabeh Ramezani-Ali Akbari 2
- Zohre Fatemi 4
1 Professor of Neonatal-Perinatal Medicine , Department of Pediatrics, School of Medicine, Imam Reza Hospital , Kermanshah University of Medical Sciences, Kermanshah, Iran
2 Doctor of Medicine, School of Medicine , Kermanshah University of Medical Sciences, Kermanshah, Iran
3 Department of Immunology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
4 pediatric &congenital cardiology Division,Pediatric Department,Factulty of Medicine , Mashhad University of Medical Sciences, Mashhad,Iran
Abstract
Background: Aplasia cutis congenital type VI (Bart’s syndrome) has been known as an extremely rare genetic disorder in which there is localized absence of skin, epidermolysis bullosa and nail deformities.
Case report: Here, we present a rare case of Bart’s syndrome in a female newborn diagnosed with congenital loss of skin over upper and lower limbs, trunk, neck and face as well as some bullae on them. Moreover, a dilated stomach was observed in radiographic examination. We treated the baby with TPN, systemic antibiotics, and also her wounds were covered by topical ointments. Laboratory tests, along with liver and renal function analyses were normal, and also serologic tests for infection were negative but she died at the age of 4 days.
Conclusion: The association between Bart’s syndrome and pyloric atresia is a highly fatal combination and there is no treatment option to rescue the patients.
Keywords
- Rajpal A, Mishra R, Hajirnis K, Shah M. Bart’s syndrome. Indian J Dermatol. 2008; 53:88–90.
- Bart BJ, Garlin RJ, Anderson VE LF. Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa: A new syndrome. Arch Dermatol. 1966; 93:296–304.
- Smith SZ CD. A mechanobullous disease of the newborn : Bart’s syndrome. Arch Dermatol. 1978; 114(1):81–4.
- Sirota L, Dulitzky F MA. Bart’s syndrome: a mechanobullous disease of the newborn. Report of five cases and review. Clin Pediatr (Phila). 1986; 25(5):252–4.
- Quinteros DA, Ferreira LM, Schaffazick SR, Palma SD, Allemandi DA CL. Novel Polymeric Nanoparticles Intended for Ophthalmic Administration of Acetazolamide. J Pharm Sci. 2016; 105(10):3183–90.
- Shaw DW, Fine JD, Piacquadio DJ, Greenberg MJ, Wang-Rodriguez J EL. Gastric outlet obstruction and epidermolysis bullosa. J Am Acad Dermatol. 1997; 36(2):304–10.
- Dang N, Klingberg S, Rubin AI, Edwards M, Borelli S RJ Relic J, Marr P, Tran K, Turner A, Smith N, Murrell DF. Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the li. Acta Derm Venereo. 2008; 88:438–448.
- Okoye BO, Parikh DH, Buick RG LA. Pyloric atresia: five new cases, a new association, and a review of the literature with guidelines. J Pediatr Surg. 2000; 35:1242–1245.
- Puvabanditsin S, Garrow E, Samransamraujkit R, Lopez LA LW. Epidermolysis bullosa is associated with congenital localized absence of skin, fetal abdominal mass, and pyloric atresia. Pediatr Dermatol. 1997; 14:359–362.
- Toma P, Mengozzi E, Dell’Acqua A, Mattioli G, Pieroni G FG. Pyloric atresia: report of two cases (one associated with epidermolysis bullosa and one associated with multiple intestinal atresias). Pediatr Radiol. 2002; 32:552–555.
- AH A. Congenital pyloric atresia and associated anomalies. Pediatr Surg Int. 2007; 23:559–563.
- Ilce Z, Erdogan E, Kara C, Celayir S, Sarimura N SO Ilce Z, Erdogan E, Kara C, Celayir S, Sarimurat N, Senyüz OF, Yeker D. Pyloric atresia: 15-year review from a single institution. J Pediatr Surg. 2003; 38: 1581–1584.
- Maman E, Maor E, Kachko L CR. Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive condition. Am J Med Genet. 1998; 78:127–133.
- Sandru, F. et al. A Case Report of Aplasia Cutis Congenita Type VI: Bart Syndrome. Mod Med. 2019; 16:213–7.
- Blionas A, Giakoumettis D, Antoniades E, Drosos E, Mitsios A, Plakas S, Sfakianos G, Themistocleous SM. Aplasia cutis congenita: Two case reports and discussion of the literature. SurgNeurolInt. 2017; 8:273.
- Conrad C, Freitas A, Clifton MS DM. Hereditary multiple intestinal atresias: 2 new cases and review of the literature. J Pediatr Surg. 2010; 45:21–4.
- Birnbaum RY, Landau D, Elbedour K, Ofir R, Birk OS CR. Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients. Am J Med Genet A. 2008; 146:1063–6.
- Sarin YK NN. Carmi syndrome is complicated by pharyngo-esophageal perforation. Indian Pediatr. 2006; 43:61–4.
- Carmi R, Sofer S, Karplus M, Ben-Yakar Y, Mahler D, Zirkin H Bar-Ziv J. Aplasia cutis congenita in two sibs discordant for pyloric atresia. Am J Med Genet. 1982; 11:319–28.
- Hayashi AH, Galliani CA G DA. Congenital pyloric atresia and junctional epidermolysis bullosa: a report of long term survival and a review of the literature. J Pediatr Surg. 1991; 26:1341–5.
- Maman E, Maor E, Kachko L CR. Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease. Am J Med Genet. 1998; 78:127–33.
- Reitelman C, Burbige KA, Mitchell ME HT. The urological manifestations of epidermolysis bullosa. J Urol. 1986; 136:1320–2.
- Okoye BO, Parikh DH, Buick RG LA. Pyloric atresia: five new cases, a new association, and a review of the literature with guidelines. J Pediatr Surg. 2000; 35:1242–5.
- Lestringant GG, Akel SR QK. The pyloric atresia-junctional epidermolysis bullosa syndrome:Report of a case and review of the literature. Arch Dermatol. 1992; 128:1083–6.
- Dang N, Klingberg S, Rubin AI, Edwards M, Borelli S, Relic J Marr P, Tran K, Turner A, Smith N, Murrell DF. Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the li. Acta Derm Venereol. 2008; 88:438–448.
- CM M. Congenital gastric outlet obstruction. J Pediatr Surg. 1998; 24:12416.
- Al-Salem A, Nawaz A, Matta H JA. Congenital pyloric atresia: the spectrum. Int Surg. 2002; 87:147–51.
- Dessanti A, Iannuccelli M, Dore A, Meloni GB NP. Pyloric atresia: an attempt at anatomic pyloric sphincter reconstruction. J Pediatr Surg. 2000; 35:1372–4.
- Hünefeld C, Mezger M, Kern JS, Nyström A, Bruckner-Tuderman L, Müller I Handgretinger R, Röcken M. One goal, different strategies--molecular and cellular approaches for the treatment of inherited skin fragility disorders. Exp Dermatol. 2013; 22(3):162–7.
- Dank JP, Kim S, Parisi MA, Brown T, Smith LT, Waldhausen J Sybert VP. Outcome after surgical repair of junctional epidermolysis bullosa-pyloric atresia syndrome: a report of 3 cases and review of the literature. Arch Dermatol. 1999; 135(10):1243.
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