| Summary: | Kindler syndrome is an extremely rare genetic disorder with features of epidermolysis
bullosa and poikiloderma congenitale. Approximately 70 cases have been documented in
the past 50 years but oral findings have only been superficially mentioned. The aims of this
study were to 1) accurately document oral findings with an emphasis on the periodontal
condition, 2) examine the components of the basement membrane zone in search of the
pathobiological defect(s) responsible for the clinical findings, and 3) determine the
effectiveness of periodontal treatment and other dental treatment for a patient with Kindler
syndrome. A female 16-year-old patient with a history of prepubertal periodontal disease
and loss of permanent molars and incisors in the mandible presented with localized, early
onset periodontal disease, severe gingival bleeding, and gingival fragility. The basement
membrane zone of normal gingiva and that with the characteristic vesiculobullous lesions
were examined using immunofluorescence microscopy to bullous pemphigoid antigens 1
and 2, collagen types IV and VII, laminins -1 and -5, integrins a3j31, orv/36, and a6/34.
Biopsies studied revealed blistering with trauma at the level of lamina lucida on
distribution of type TV collagen and laminin-1 at the blister floor. In the non-inflamed
tissue, discontinuous areas of the basement membrane zone were found. Distribution of
basement membrane zone components and integrins studied appeared normal except for
type VTI collagen which was found in abnormal locations deep in the connective tissue
stroma and integrin av/36 which was unexpectedly present in localized areas of the
epithelium. Our results suggest that Kindler syndrome is associated with abnormalities in
the construction of the basement membrane, especially in the expression of type VII
collagen. These alterations are likely to play a role as etiological factors leading to a
weakened resistance at the tooth-periodontal tissue interface. Oral polymorphonuclear
leukocyte counts and elastase levels were high suggesting normal leukocyte function. The
patient responded well to nonsurgical periodontal therapy with reduced probing depths, bleeding on probing, mobility and dental pain. Successful dental treatment involving
orthodontics and fixed and removable prosthodontics was carried out demonstrating that
complex oral therapy can be performed in Kindler syndrome patients regardless of the
systemic condition. === Dentistry, Faculty of === Oral Biological and Medical Sciences (OBMS), Department of === Graduate
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