© Borgis - Nowa Stomatologia 4/2007, s. 222-224
Michał Sobczak, Anna Grzybowska, Anna Gordon, Aleksander Remiszewski
Epidermolisys bullosa hereditaria – case report
Zakład Stomatologii Dziecięcej IS AM w Warszawie p.o Kierownika Zakładu: Dr n. med. Aleksander Remiszewski Pediatric Dentistry Department, Medical University of Warsaw
Epidermolisys bullosa (EB) is a group of rare, genetically determined skin diseases. Its incidence is approximately10-30 cases per million. This is disorder of ectoderm tissue with an unknown etiology, characterized by a susceptibility to damage of epidermis and epithelium with induce of blister formation after minor trauma or pressure [1, 2].
EB´s are divided into three groups according to their pathogenetic mechanisms: epidermolysis bullosa simplex (EBS), dystrophic epidermolisys bullosa (DEB) and junctional epidermolisys bullosa (JEB). The severity of EB depends upon the type of underlying defect [3, 4].
Epidermolysis bullosa simplex is characterized by the intraepidermal blister formation, among the basal keratinocytes, most commonly appearing in an early infancy. The disease is inherited recessively or dominantly, depending on the disease subtype.
EBS´s are characterized by bullae formation secondary to friction, minor trauma or sweating combined with an elevated body temperature. Healing of vesicles occurs without scarring. There are several varieties of EBS. The most common is localized EBS (Weber-Cockayne´s) which is the mildest form of disease and may appear in adolescence. Generalized EBS (Koebner´s) variant appears at birth or early infancy. Herpetiform EBS (Dowling-Meara´s) appears at birth as generalized blistering disorder (fig. 1). Oral changes are common in this subtype [1, 5, 6,].
Fig. 1. Pathomechanism of epidermal damage.
Epidermolysis bullosa dystrophica is characterized by the subepidermal blister formation.
Blisters commonly heal with scarring and milla formation. There are four forms of the disease. The autosomal dominant DEBs are: Cockayne-Touraine´s and Passini´s variants. The two autosomal recessive forms are: localized recessive DEB and generalized recessive DEB (Hallopeau-Simens´s variant). The Hallopeau-Simens´s variant is the severe form of the disease, which begins at birth with generalized blistering and heals with the formation of cicatrices (Fig. 2). Severe form with oral involvement affects the teeth and leads to dental destruction [1, 7, 8].
Fig. 2. Pathomechanism of epithelium damage.
Junctional epidermolisys bullosa appears at birth, histologically is characterized by the blister formation within the lamina lucida of the basement membrane zone. The epithelialization of the affected areas takes place without cicatrix formation.
All subtypes are inherited recessively. The most lethal variant is Herlitz disease. Mortality may be as high as 40% in the first year of life. Generalized blistering is evident at birth. Involvement of the teeth and nails is common. There are milder forms of JEB, which also appear at birth, but survival past infancy is the rule [1, 9].
In a characterized groups of EB diseases general symptoms occurring in patients depends from severity of disease form and may involve [6, 9]:
– mutilation of hands and feet
– atrophy of skin nails and hair
– musculoskeletal deformities
– endocrinology disorders
– respiratory, gastrointestinal and urological epithelia involvement
– handicap
The oral and dental manifestations in different variants of EB hereditaria occur with [2, 10]:
– microstomy
– flat oral vestibule, obliteration of vestibule
– short tonque frenulum
– disortion of alveolar processes
– hypodontia
– discoloratin of teeth
– hypomineralization of teeth
– hypoplasia of enamel
– disorders of tooth eruption
– bad oral hygiene
– susceptibility to caries.
Case report
A 9 year old girl was referred to Pediatric Dentistry Department in 2004, in age of 8. The child was socially well adjusted. There was no family history of epidermolisys bullosa.
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Piśmiennictwo
1. Kihiczak N.I., et al.: Epidermolisys bullosa hereditaria simplex. Case report. Acta dermatovenerologica.2001, 10, 1, 1-8. 2.Knychalska-Karwan Z.: Stomatologia zachowawcza wieku rozwojowego. Wydawnictwo Uniwersytetu Jagiellońskiego. Kraków, 1999, 173. 3.Momeni. A., Pieper K.: Junctional epidermolisys bullosa: a case report. Int. J. Paed. Dent. 2005, 15, 2, 146-150. 4.Liversidge H.M., et al.: Epidermolisys bullosa and dental developmental age. Int. J. Paed. Dent. 2005, 15, 5, 335-341. 5. Szczepański O., Walczak M.: Zarys pediatrii. PZWL. Warszawa, 1984, 767. 6.Caroll D.L., et al.: Epidermolisys bullosa- review and report of case. J. Am. Dent. Assoc. 1983, 107, 5, 749-751. 7.Smosarska H.: Choroby błony śluzowej jamy ustnej. PZWL. Warszawa, 1975, 150. 8. Michałowski R.: Choroby warg i błony śluzowej jamy ustnej. PZWL. Warszawa, 1981, 340-341. 9.Finke C., et al.: Value of detal treatment In interdisciplinary management of a Chile with epidermolisys bullosa dystrophica hereditaria (Hallopeau-Simens). Hautartz. 1996, 47, 4, 307-310. 10.Szpringer-Nodzak M.: Stomatologia wieku rozwojowego. PZWL. Warszawa, 1999, 176-177.
