Bart´s syndrome associated with epidermolysis bullosa junctionalis and with pyloric atresia. An autopsy case report

Česká verzia

Authors: Katarína Adamicová ¹; Tomáš Balhárek ¹; Lucia Lúčanová ²; Oľga Nyitrayová ³; Želmíra Fetisovová ⁴
Authors place of work: Ústav patologickej anatómie JLF UK a UN Martin ¹; Neonatologická klinika JLF UK a UN Martin ²; Cytopathos, spol. s r. o., Bratislava ³; Dermatovenerologická klinika JLF UK a UN Martin ⁴
Published in the journal: Čes.-slov. Patol., 50, 2014, No. 4, p. 155-158
Category: Původní práce

Summary

Bart‘s syndrome, in literature also known under the name CLAS (Congenital Localised Absence of Skin), first described by Bart in 1966 as congenital localized absence of skin, epidermolysis bullosa congenita and nail abnormalities. The authors present a macroscopic and histological findings of a newborn with Bart‘s syndrome, with epidermolysis bullosa junctionalis and atresia pylori, who died 17 days after birth and 13 days after surgery for pyloric stenosis.

Key words:
Bart´s syndrome – atresia pylori – epidermolysis bullosa junctionalis – CLAS

Zdroje

1. Rajpal A, Mishra R, Hajirnis K, Shah M, Nagpur N. Bart‘s syndrome. Indian J Dermatol 2008; 53(2): 88-90.

2. Narter F, Büyükbabani N, Yrarli H, öztürk S, Ergüven M. Bart´s syndrome associated with pyloric and choanal atresia. The Turkish J of Pediatrics 2013; 55(2): 214-217.

3. Pereira de Almeid NA, Serafini F, Marchiori J, Del Moro JG. Do you know this syndrome? An Bras Dermatol 2010; 85(1): 119-121.

4. Duran-McKinster C, Rivera-Franco A, Tamayo L, de la Luz Orozco-Covarrubias M, Ruiz-Maldonado R. Bart syndrome: the congenital localized absence of skin may follow the lines of Blaschko. Report of six cases. Pediatr Dermatol 2000; 17(3): 179-182.

5. Smith SZ, Cram DL. A mechanobullous disease of the newborn. Bart‘s syndrome. Arch Dermatol 1978; 114(1): 81-84.

6. Bajaj DR, Quereshi A. Bart´s syndrome a case report. J of Pakist Assoc of Dermatol 2008; 18: 113-115.

7. Zelickson B, Matsumura K, Kist D, Epstein EH Jr, Bart BJ. Bart´s syndrome: Ultrastructure and genetic linkage. Arch Dermatol 1995; 131(6): 663-668.

8. Bučková H, Buček J. Epidermolysis bullosa congenita. Brno: IDVZP; 2000: 3-122.

9. Calonje E, Brenn T, Lazar A, McKee PH, eds. McKee´s Pathology of the skin. (4th edn). Philadelphia: Elsevier; 2012: 938-939.

10. Pfendner E, Uitto P. Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. J Invest Dermatol 2005: 124(1): 111-115.