Introduction

Kindler syndrome (KS) is a rare, autosomal recessive disorder that was first described in 1954 and less than 150 cases have been reported worldwide till today (1). Symptoms of KS include congenital acralblisters and photosensitivity, which improve considerably with age, followed by progressive poikiloderma usually developing in childhood, and diffuse cutaneous atrophy (2,3). Acral blisters and bullae are more frequent in trauma-prone areas of the body. Cutaneous alterations including skin fragility and atrophic changes (cigarette paper-like wrinkled appearance of the skin) are more common in sun-exposed areas, especially on the dorsal surfaces of the hands and feet (4). Mucosal involvement may lead to stenosis of urethral, anal, esophageal, and oral commissures (5,6). Ophthalmic abnormalities such as ectropion, keratoconjunctivitis, and conjunctival scarring, have also been reported (7). Less common symptoms include pitted or punctuate palmoplantar hyperkeratosis, webbing and joint contractures of fingers and toes, nail dystrophy, alopecia, and actinic changes of the skin (2). Skeletal malformations including dome-shaped skull (turricephaly) and mandible and rib abnormalities have been described in one case and transitional cell carcinomas of the bladder have been reported (3).

The histological features of KS are a disorganization of basal layer cells and disruption and reduplication of the lamina densa. These observations differentiate KS from dystrophic epidermolysis bullosa and other genodermatoses (8). Histopathologic examination of skin lesions in patients with KS reveals non-specific features of poikiloderma. The epidermis is flattened and atrophic. Edema is present at the dermoepidermal junction, and the basal layer has focal vacuolization with basal cell degeneration (8,9). Other histologic features can include a prominence of dermal capillaries, pigmentary incontinence, and prevascular lymphocytic infiltration (3).

There have been few reports of oral lesions in patients with KS since the original report in 1954. When oral lesions occur in KS, they are most often gingivitis, white patches on oral mucosa, atrophy and erosion of the mucosa, and lip pigmentation (8). In some cases, early development of actinic keratosis as well as squamous cell carcinoma of the lower lip and hard palate has been reported (3).

Since desquamative gingivitis is indicative of mucocutaneous disease, differential diagnosis includes pemphigus, pemphigoid, and lichen planus. In KS, the marginal gingival tissue appears reddened and inflamed as a result of its fragility and susceptibility to inflammation induced by bacterial plaque. Poor oral hygiene found in most patients with KS is explained by significant bleeding and pain in the hands and oral soft tissues during tooth brushing (10). Wiebe et al. (10) described a case of a female with Weary-Kindler syndrome who presented early exfoliation of the deciduous dentition and severe juvenile periodontitis around the permanent teeth, with fragile and bleeding gingiva. The periodontal disease in this weary-kindler case treated with conventional periodontal therapy, without any surgery or chemotherapeutic agents.

Because of the rarity of reports of KS with oral manifestations; here we present a case of sporadic KS with classical clinical presentations involving skin and mucous membranes and oral involvement.

Case Report

A 25-year-old female was referred to the Mashhad Faculty of Dentistry with complaints of dry mouth and gingival pain during brushing, which had occurred for 6 years. The patient history was consistent with KS, having generalized poikiloderma, (multiple hypo- and hyperpigmentation patches over the face, neck, and lips), acral blisters, progressive skin atrophy and photosensitivity (Fig. 1). The dorsal aspect of the hands and feet showed atrophic scarring with shiny cigarette paper-like wrinkling (Fig. 2). At presentation, the patient had one missing in mandibular teeth, some dental caries, and limited localized plaque and calculus but with significant spontaneous bleeding and bleeding on probing. The gingiva was thin and fragile and the epithelium was sloughed with minor trauma. The depth of pockets was less than 2 mm but localized areas of recession of 3 mm were observed (Fig. 3).

Scaling, root planning, and regular periodontal maintenance procedures were initiated, and resulted in significant improvement in the appearance of the gingiva and general oral comfort. After a four-month follow up, the number of sites with bleeding on probing was decreased and the gingiva appeared healthy.

Histopathological examination of a biopsy taken from a plaque on her skin revealed hyperkeratosis with flattened rete ridges, epidermal atrophy, fibrosis in papillary and reticular dermis, and capillary formation in the form of network (Fig. 4). The dermis showed a mild lymphohistiocytic infiltration and pigmentary incontinence and hydropic degeneration of basal layer. Diagnosis of KS was made on the basis of clinical and histopathological examination.

 Figure 1. Multiple hypo- and hyperpigmentation patches over the neck

Figure 2. Dorsal side of hands showing atrophic scarring and cigarette paper-like wrinkling

Figure 3. The gingiva was thin and fragile with limited localized plaque and calculus. Pocket depth was generally less than 2 mm

Figure 4. Histological examination of biopsy tissue taken from a plaque on the patient's skin showing hyperkeratosis with epidermal atrophy, papillary fibrosis, and reticular dermis (H & E staining). The dermis had mild lymphohistiocytic infiltration and hydropic degeneration of the basal layer