Tikhonovskaya I.V.*, Lesnichaya O.V.*, Pushkarskaya I.A.**
Junctional localized epidermolysis bullosa: a case of late diagnosis
*Education Establishment "Vitebsk State Order of Peoples’ Friendship Medical University", Republic of Belarus
**Healthcare Establishment "Vitebsk regional dermatovenerologic dispensary", Republic of Belarus
A patient from the mycological department of the Vitebsk regional clinical dermatovenerologic dispensary was observed. The onset of the disease occurred in his childhood. Similar eruptions were observed in his mother’s once removed grandfather. The patient has two dermatologically healthy daughters. His dermatologic status is as follows: on the skin of the hands, legs isolated bullae, recovery erosions, superficial atrophy foci, hyperpigmentation are determined. On the IV finger of the left hand the bulla with hemorrhagic content is seen. This bulla appeared after the application of a cotton ball in place of blood sampling. Nails and hair are not changed. Urine levels of porphyrins were negative. His general health is good. Pathomorphologic data: subepidermal blisters with hemorrhagic or fibrin contents are seen. The bland perivascular infiltrate in the dermis was found. The inflammatory infiltration is represented mainly by lymphocytes and fibroblasts. Considering the medical history, clinical manifestations, pathomorphologic data the diagnosis of junctional localized epidermolysis bullosa was made. Light, immunofluorescence and electron microscopy are necessary for the diagnosis and differential diagnosis of various forms of epidermolysis bullosa and bullous skin diseases.
Key words: epidermolysis bullosa, pathomorphology, diagnosis.
1. Adaskevich VP, Kozin VM. Genodermatozy [Genodermatosis]. V: Adaskevich VP, Kozin VM. Kozhnye i venericheskie bolezni: ucheb. ruk. 2-e izd. Moscow, RF: Med. lit; 2009. р. 390-396.
2. Aouthmany M, Keller E, Piliang M. Dermatopathology diagnosis: junctional epidermolysis bullosa. Cutis. 2012 Aug;90(2):64, 81-2.
3. Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, McGrath JA, Mellerio JE, Murrell DF, Shimizu H, Uitto J, Vahlquist A, Woodley D, Zambruno G. The classiﬁcation of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classiﬁcation of EB. J Am Acad Dermatol. 2008 Jun;58(6):931-50.
4. Schumann H, Kiritsi D, Pigors M, Hausser I, Kohlhase J, Peters J, Ott H, Hyla-Klekot L, Gacka E, Sieron AL, Valari M, Bruckner-Tuderman L, Has C. Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations. Br J Dermatol. 2013 Jul;169(1):115-24.
5. Kiritsi D, Has C, Bruckner-Tuderman L. Laminin 332 in junctional epidermolysis bullosa. Cell Adh Migr. 2013 Jan-Feb;7(1):135-41.
6. Castiglia D, Posteraro P, Spirito F, Pinola M, Angelo C, Puddu P, Meneguzzi G, Zambruno G. Novel Mutations in the LAMC2 Gene in Non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition. J Invest Dermatol. 2001 Sep;117(3):731-9.
7. Handley J, Walsh M, Carson D, Burrows D, Nevin N. Laryngo-onycho-cutaneous syndrome associated with familial benign hypercalcemia. J Am Acad Dermatol. 1993 Nov;29(5 Pt 2):906-9.
8. Yuen WY, Pas HH, Sinke RJ, Jonkman MF. Junctional epidermolysis bullosa of late onset explained by mutations in COL17A1. Br J Dermatol. 2011 Jun;164(6):1280-4.
9. Pope E, Lara-Corrales I, Mellerio J, Martinez A, Schultz G, Burrell R, Goodman L, Coutts P, Wagner J, Allen U, Sibbald G. A consensus approach to wound care in epidermolysis bullosa. J Am Acad Dermatol. 2012 Nov;67(5):904-17.
10. Fine JD, Johnson LB, Weiner M, Li KP, Suchindran C. Epidermolysis bullosa and the risk of life-threatening cancers: the national EB Registry experience, 1986-2006. J Am Acad Dermatol. 2009 Feb;60(2):203-11.
11. Fine JD, Hall M, Weiner M, Li KP, Suchindran C. The risk of cardiomyopathy in inherited epidermolysis bullosa. Br J Dermatol. 2008 Sep;159(3):677-82.
12. Taibjee SM, Ramani P, Brown R, Moss C. Lethal cardiomyopathy in epidermolysis bullosa associated with amitriptyline. Arch Dis Child. 2005 Aug;90(8):871-2.