Anido EV, Seijas CO, Hidalgo GA, Cantero MM, González LN, Leonard FI

Language: Spanish
References: 13
Page: 238-246
PDF size: 147.02 Kb.

ABSTRACT

Introduction: Epidermolysis Bullosa is a very rare disease in the medical practice, which carries important damages to the patients and high rates of mortality. There are not previous scientific reports in our country, and few international reports of older patients with this disease.
Objective: the goal of this paper is to show an adult patient with diagnosis of Epydermolysis Bullosa and dysphagia caused by stenosal ring as complication of that disease, which is unfrequented in medical practice.
Case presentation: a female 62 year old patient clinically studied due to dysphagia and previous diagnosis of Epidermolysis Bullosa and beside skin lesions she presented internal organs lesions like in esophagus.
Conclusions: Epidermolysis Bullosa diagnosis is determined by skin manifestation thus as the subtype presented by patient. Because the patient presented dysphagia we had taken in consideration the possibility of esophageal affection due to rings or membrane which are diagnoses using both radiological and endoscopic studies, the former done using thin endoscope.

REFERENCES

1. McGrath JA, Mellerio JE. Epidermolysis bullosa. Br J Hosp Med (Lond). Apr 2006; 67(4):188-91.

2. Fine JD, Johson LB, Weiner M, Stein A, Cash S, DeLeoz J, et al. The classification of inherited epidermolysis bullosa (EB): Report of the third international consensus meeting on diagnosis and classification of EB. Journal of the American Academy of Dermatology. 2008;58:931.

3. Fine JD. Inherited epidermolysis bullosa: Recent basic and clinical advances. Current Opinion in Pediatrics. 2010;22:453.

4. Marinkovich MP. Epidermolysis bullosa (on line). Marinkovich MP, 2012 [cited: 18 de Diciembre del 2012]. Available in: http://emedicine.medscape.com/article/1062939-followup#a2651

5. Pai S, Marinkovich MP. Epidermolysis bullosa: New and emerging trends. American Journal of Clinical Dermatology. 2002;3(6):371-80.

6. Morelli JG. Vesiculobullous disorders. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. chap 653. Philadelphia, Pa: Saunders Elsevier; 2007.

7. Gupta R, Woodley DT, Chen M. Epidermolysis bullosa acquisita. Clinics in Dermatology. 2012;30:60-9.

8. Moura EG, Couto-Junior DS, Alvarado Escobar H, da Costa-Martins B, Sallum RA, Artifon El, et al. Espidermólisis bullosa adquirida complicada por estenosis de esófago. Tratamiento endoscópico con sondas termoplásticas e inyección intralesional de corticoesteroide. Rev Gastroenterol Mex. 2011;76(3):279-85.

9. Fine JD, Mellerio JE. Epidermolysis Bullosa. In: Bolognia JL, Jorizzo JL, Schaffer JV, et al, eds.Dermatology. 3rd ed. chap 32. Philadelphia, Pa: Mosby Elsevier; 2012

10. Salavastru Cm, Sprecher E, Panduru M, Bauer J, Solovan CS, Patrascu V, Morariu HS, et al. Recommend strategies for epidermolysis bullosa management in romania. Maedica. 2013 Jun;8(2):200-5.

11. Takeichi T, Nanda A, Liu L, Salam A, Campbell P, Fonq K, et al. Impact of next generation sequencing on diagnostics in a genetic skin disease clinic. Exp Dermatol. 2013 Dec;22(12):825-31.

12. Abdul-Wahab A, Petrof G, McGrath JA. Bone marrow transplantation in epidermolysis bullosa. Inmunotherapy. 2012 Dec;4(12):1859-67.

13. Hunefeld C, Mezqer M, Kern JS, Nystrom A, Bruckner-Tuderman L, Muller I, et al. One goal, different strategies-molecual and celular approaches for the treatement of inherited skin fragility disorders. Exp Dermatol. 2013 Mar;22(3):162-7.