Kindler syndrome: report of two cases

Nogueira, Lisiane; Vilasboas, Vírginia; Talhari, Carolina; Talhari, Sinésio; Santos, Mônica

doi:10.1590/s0365-05962012000500020

Cited by 8 publications

(14 citation statements)

References 9 publications

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“…It is based on the administration of topical and systemic antibiotics to treat infected blisters . Protecting the skin against stress or mechanical trauma may minimize the formation of blisters; sun exposure should be avoided, and the skin should be continuously hydrated to retard or even prevent the progression of poikiloderma. Systemic corticotherapy may also be indicated, as the anti‐inflammatory properties of corticoids can improve the patient's overall health status .…”

Section: Discussionmentioning

confidence: 99%

“…The oral manifestations most commonly reported in the literature are listed in Table 4 . They frequently manifest as erosive areas in the gingiva, buccal and labial mucosa, 5,[11][12][13] severe periodontitis with spontaneous bleeding 14 (coinciding with eruption of permanent teeth and rapidly progressing), 15 angular cheilitis, 16 desquamative gingivitis, 12,17,18 poor dentition with premature loss of teeth, 4,19 leukokeratosis of the lips, 20 xerostomia, caries, 21 and halitosis. 13 The case here described presents characteristics similar to those reported by other authors, with ulcers in the oral mucosa, keratosis of the lips, and premature loss of teeth due to periodontal disease.…”

Section: Discussionmentioning

confidence: 99%

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Oral manifestations in Kindler syndrome: case report and discussion of literature findings

Barbosa

Visioli

Martins

et al. 2016

Special Care in Dentistry

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Kindler syndrome is a rare genetic disorder showing some predominant clinical manifestations, for example, trauma-induced blisters, progressive poikiloderma, skin atrophy, and photosensitivity. Oral manifestations are not commonly described and can be often misdiagnosed. This report describes the case of a female patient diagnosed with Kindler syndrome showing the classical clinical features affecting the skin, in addition to oral lesions manifesting as keratotic plaques and ulcers affecting the buccal mucosa, floor of the mouth, alveolar ridge, hard palate, and soft palate. An incisional biopsy was performed to confirm the diagnostic hypothesis of an autoimmune lesion possibly related with the syndrome. Knowledge about the possible manifestations of the Kindler syndrome is important to improve its management.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Oral manifestations in Kindler syndrome: case report and discussion of literature findings

Barbosa

Visioli

Martins

et al. 2016

Special Care in Dentistry

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“…Subsequently, the child presents skin atrophy, poikiloderma and gingivitis. Some children also present eye involvement, nail dystrophies, syndactyly, joint hypermobility, bifid or missing ribs, palmoplantar keratoderma, leukokeratosis of the oral mucosa, pseudoainhum, mental retardation and growth retardation [3][4][5]7,[13][14][15]. The unfavorable prognosis is determined by the presence of esophageal, urethral, and anal stenosis and the high risk of developing squamous cell carcinomas after the fourth or fifth decade of life [7,[16][17][18][19].…”

Section: Resultsmentioning

confidence: 99%

“…The diagnosis for KS is clinical, but it is sustained by the histopathological exam which is non specific, electronic microscopy, immunostaining with anti-kindlin-1 antibody and genetic testing [6,20,21,22] The most characteristic histological abnormality found in the skin of Kindler syndrome is vacuolar degeneration of the basal layer of the epithelium, epidermal atrophy, pigmentary incontinence and mild lymphocytic infiltrate in the upper dermis, consistent with poikiloderma [14,15,23,24]. Electron microscopy shows major disorganization of the basement membrane, with duplication and disruption of the lamina densa, and formation of clefts observed in the lamina lucida [9,25].…”

Section: Resultsmentioning

confidence: 99%

The Assessment of Polysaccharides, Mucosubstances and Colagen IV in Kindler Syndrome

2020

Rev.Chim.

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Kindler syndrome is a rare autosomal recessive genodermatosis characterized by particular fragility of the skin and mucosa, manifesting in the appearance of bullae in minor traumas, photosensitivity, diffuse cutaneous atrophy and progressive poikiloderma. It is caused by mutations in the FERMT1 gene encoding kindlin-1. We present the case of a 12-year-old girl diagnosed with Kindler syndrome showing the classical clinical features affecting the skin, in addition to nail involvement, gingivitis, periodontitis, growth retardation, mental retardation, esophageal and anal stenosis. The histopathological examination of a cutaneous biopsy revealed the presence specific features of Kindler syndrome. Keywords: Kindler syndrome, photosensitivity, esophageal and anal stenosis, skin biopsy

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“…Additionally, KS patients present an increased susceptibility for development of squamous cell carcinomas. The diagnosis is essentially clinical but could be supported by histopathologic examination, immunostaining with anti-kindlin-1 antibody, electron microscopy examination, and molecular genetic testing (1)(2)(3)(4).…”

Section: Discussionmentioning

confidence: 99%

Nailfold capillaroscopic changes in Kindler syndrome

Dobrev

Vutova

2015

IRDR

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Kindler syndrome (KS), the fourth major type of hereditary epidermolysis bullosa (HEB), is a rare, autosomal recessive disorder characterized by skin fragility and blistering at birth followed by development o f m a r k e d p h o t o s e n s i t i v i t y a n d p r o g r e s s i v e poikilodermatous skin changes in later years. After the first description by Theresa Kindler in 1954, more than 250 cases have been reported to date (1-4). In Bulgaria, about 100 patients suffered from HEB were currently registered. Among them only one case with KS is described (5). We report here a new case of KS putting accent on the nailfold capillaroscopic changes.A 54-year-old woman presented with history of recurrent blistering after minor friction or trauma started after birth. The changes were more prominent on the extremities and tend to regress with age. Subsequently, photosensitivity, discoloration and atrophy of the skin developed. In addition, occasionally gingival and urethral bleeding, and surgically treated squamous cell carcinoma on the dorsum of the right hand 7 years ago were reported. The family history was negative. On examination, diffuse poikiloderma (atrophy, telangiectases, and reticular pigmentation), mainly on the face and dorsal surfaces of the hands and feet, was observed. The dorsum of the hands and feet had atrophic skin with cigarette paper-like wrinkling. There were also skin erosions, atrophic scars, ectropion, gingivitis and periodontitis with missing teeth, and nail changes (prolonged eponychium, transverse and longitudinal ridges, onycholysis, yellow discoloration) (Figure 1). Routine blood tests, including immunological tests, were within normal range. The result from the nerve conduction study indicated the presence of sensory polyneuropathy. The histopathologic examination of skin lesion, performed 20 years ago, revealed an atrophic epidermis, subepidermal cracks, flattened dermis with thin collagen fibers, edema, dilated capillaries, pigmentary incontinence, and scarce perivascular infiltrate. A diagnosis KS type of HEB was made and symptomatic treatment was applied.In order to explore the changes in microcirculation we performed nailfold videocapillaroscopy at varied magnifications (×60, ×200, and ×500) using digital dermatoscope DinoLite (AnMo, Taipei, Taiwan). The following capillaroscopy findings were found: skin transparency: good; number: 4-6/mm, reduction in capillary density; morphology: shape heterogeneity and marked tortuosity with varied appearance; dimensions: regularly and irregularly enlarged (width 30-50 SummaryKindler syndrome (KS), the fourth major type of hereditary epidermolysis bullosa (HEB), is a rare, autosomal recessive disorder characterized by skin fragility and blistering at birth followed by development of marked photosensitivity and progressive poikilodermatous skin changes in later years. We reported here the case of a 54-year-old woman, who fulfills the diagnostic criteria of KS type of HEB, putting accent on the nailfold capillaroscopic changes. Using videocapill...

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Kindler syndrome: report of two cases

Cited by 8 publications

References 9 publications

Oral manifestations in Kindler syndrome: case report and discussion of literature findings

Oral manifestations in Kindler syndrome: case report and discussion of literature findings

The Assessment of Polysaccharides, Mucosubstances and Colagen IV in Kindler Syndrome

Nailfold capillaroscopic changes in Kindler syndrome

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