Hatice TURGUT, Hüseyin KAYA, İsmail Kürşad GÖKÇE, Ramazan ÖZDEMİR, Ercan YILMAZ, Lale GULİYEVA

Aplazia Kutis Konjenita Tip VI (Bart Sendromu) Olgusu

Bart sendromu (aplazia kutis konjenita tip VI olarak ta adlandırılır) aplazia kutis konjenita, epidermolizis bülloza ve distrofik tırnaklarla karakterize genetik bir hastalıktır. Lokalize cilt defektlerine intrauterin dönemde oluşabilen büllöz lezyonların neden olduğu düşünülmektedir. Biz doğumdan hemen sonra her iki ayak bileği ve ayak sırtında cilt defektleri saptanan bir olgu sunduk. Hastamızda postnatal üçüncü günde basıya maruz kalan bölgelerde büllöz lezyonlar gelişti. Aile öyküsü ve tırnaklardaki distrofik değişikliklerle Bart sendromu tanısı aldı. Takip eden günlerde konservatif tedavi (topikal kremler ve ıslak gazlı bez) ile cilt lezyonlarında düzelme izlendi. Hasta postnatal 30. günde taburcu edildi. Klinik kontrollere getiril- meyen hastanın postnatal 57 günlükken öldüğü öğrenildi

A Case of Aplasia Cutis Congenita Type VI (Bart’s Syndrome)

Bart’s syndrome (also called aplasia cutis congenita type VI) is a genetic disease characterized by aplasia cutis congenita, epidermolysis bullosa and dystrophic nails. Localized skin defects are thought to be caused by bullous lesions which may occur during intrauterine period. We have presented a case that found skin defects in both ankle and back of the foot immediately after birth. Our patient developed bullous lesions in areas exposed to the pressure on the postnatal third day. He was diagnosed with Bart’s syndrome with family history and distrophic changes in the nails. In the following days, the skin lesions improved with conservative treatment (topical antibacterial ointment and wet gauze dressing). The patient was discharged on the postnatal 30th day. It was informed that the patient died on postnatal 57th day who was never brought to clinical controls

PDF

___

1. Bart BJ, Gorlin RJ, Anderson VE, Lynch FW. Congenital localized absence of skin and associa- ted abnormalities resembling epidermolysis bullo- sa. A new syndrome. Arch Dermatol 1966; 93: 296-304.
2. Chiaverini C, Charlesworth A, Fernandez A, et al. Aplasia cutis congenita with dystrophic epider- molysis bullosa: clinical and mutational study. Br J Dermatol 2014; 170: 901-6.
3. Kothari C, Doshi N, Avila A, Martin D. Visual diagnosis: newborn with absence of skin. Pediatr Rev 2014; 35: 49-52.
4. Cordon M. Extract from a letter describing three children from the same mother born with parts of the extremities devoid of skin. J Med Chir Pharm 1767; 26: 556-7.
5. Frieden IJ. Aplasia cutis congenita: a clinical re- view and proposal for classification. J Am Acad Dermatol 1986; 14: 646-60.
6. Carmi R, Sofer S, Karplus M et al. Aplasia cutis congenita in two sibs discordant for pyloric atresia. Am J Med Genet 1982; 11: 319-28.
7. Bıçakcı U, Tander B, Cakmak Çelik F, Arıtürk E, Rızalar R. Pyloric atresia associated with epider- molysis bullosa: report of two cases and review of the literature. Ulus Travma Acil Cerrahi Derg 2012; 18: 271-3.
8. Duran-McKinster C, Rivera-Franco A, Tamayo L, de la Luz Orozco-Covarrubias M, Ruiz- Maldonado R. Bart syndrome: the congenital loca- lized absence of skin may follow the lines of Blaschko. Report of six cases. Pediatr Dermatol 2000; 17: 179-82.
9. Benvenuto C, Kraemer CK, Kruse RL, Cestari TF. Familial epidermolysis bullosa with aplasia cutis congenita: Bart's syndrome? Skinmed 2003; 2: 319-21.
10. Christiano AM, Bart BJ, Epstein EH Jr, Uitto J. Genetic basis of Bart's syndrome: a glycine substi- tution mutation in type VII collagen gene. J Invest Dermatol 1996;106: 778-80. Corrected and repub- lished in: J Invest Dermatol 1996;106: 1340-2.
11. Kuvat SV, Bozkurt M. Conservative treatment of a patient with epidermolysis bullosa presenting as Bart syndrome: a case report. Case Rep Med 2010; 302345.
12. Alfayez Y, Alsharif S, Santli A. A case of aplasia cutis congenita type VI: Bart syndrome. Case Rep Dermatol 2017; 9: 112-8.
13. Salavastru CM, Sprecher E, Panduru M et al. Re- commended strategies for epidermolysis bullosa management in Romania. Maedica (Buchar) 2013; 8: 200-5.
14. 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.