© 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
The oral and dental manifestations in different variants of EB hereditaria occur with [2, 10]:
– flat oral vestibule, obliteration of vestibule
– short tonque frenulum
– disortion of alveolar processes
– discoloratin of teeth
– hypomineralization of teeth
– hypoplasia of enamel
– disorders of tooth eruption
– bad oral hygiene
– susceptibility to caries.
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.
There was a history of blister formations following minor trauma on skin and oral mucosa from birth [figure 3, 4, 5]. Cutaneous blistering and scarring has been progressive, with mutilation of toes. Nails were also affected. In the age of 7, her esophagus is enlarged because of esophageal stricture. During the childhood, main problems occurred with nutrition. Because of very sensitive oral mucosa with immediate blister formation after trauma and severely damaged primary dentition she had restricted food intake. She was on soft diet up to now. The patient has anemia syndrome, so she is occasionally given iron preparations.
Fig. 3. A 9 year old child with epidermolisys bullosa dystrophica – skin and nails atrophy.
Fig. 4. A 9 year old child with epidermolisys bullosa dystrophica – blisters on knee.
Fig. 5. A 9 year old child with epidermolisys bullosa dystrophica – blisters on feet, nails atrophy.
At this moment she is in good general condition. Fresh blisters are on hands, feet, knees, and neck. Managing treatment of skin changes is supportive and preventive, with good wound healing.
Oral investigation in our patient confirms very high susceptibility to caries and very bad oral hygiene [figure 6, 7]. Other findings in the mouth in our patient were:
Fig. 6. A 9 year old child with epidermolisys bullosa dystrophica – dental status.
Fig. 7. A 9 year old child with epidermolisys bullosa dystrophica – oral changes.
– scars and blisters on oral mucosa
– short tongue frenulum with limited movement of tongue
– narrow part of bone in lower jaw
– premature resorbtion of roots in primary dentition
– discoloration and demineralization of permanent teeth.
Check – ups shows insufficient improvement in oral hygiene, even on the regular recall visits.
Treatment attempts revealed necessity of further therapy under general anesthesia. The main reasons that makes treatment impossible were: problems with teeth isolation from moisture (no possibility to use cotton rolls or suction), because of blister formation even after minor trauma, and microstomy [table 1].
Table 1. Dental treatment problems in patient with epidermolisys bullosa with oral involvement.
|Problems in treatment|
? Improvement of oral hygiene and diet problems (consistency)
? Problems with local anaesthesia,
? Problems with proper isolation of operating area (cotton rolls, rubber dam, suction)
? Problems with tooth preparation and filling
After that we decided that teeth 16, 26, 36, 46 should be treated surgically, tooth 41 needs new restoration. To improve oral hygiene we refer to use soft toothbrush with toothpaste and mouthrinse with 0,1% chlorhexidine.
Dystrophic epidermolisys bullosa with oral involvement leads to dental destruction and restricted food intake, resulting in malnutrition and maldevelopment., but can be improved through multidisciplinary management. Early dental preventive care is very important for patients with epidermolisys bullosa to minimize the need for treatment .
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.