119 Kindler Syndrome



Kindler syndrome may be difficult to distinguish from other forms of EB in the neonatal period. Photosensitivity ranges in severity and can present as facial erythema or burning, itching and blister formation after minimal sun exposure. In early childhood, the features of atrophy with ‘cigarette paper-like’ wrinkling on the dorsal hands and feet become more apparent. Poikiloderma is absent at birth, then appears on sun-exposed areas, followed by extension to non-exposed areas presenting with pigmentation, atrophic spots, reticular erythema and telangiectases [7,11,13]. Hyperkeratosis of the palms and soles has been reported as wrinkled, fissured or punctate [2,7,13]. Webbing between the fingers or toes has also been reported.


Mild to severe gingivitis with early-onset periodontitis and gingival fragility is a common feature [3,14]. The association of gastrointestinal involvement, with oesoghageal strictures and stenosis, colitis and anal stenosis has been reported [15]. Kern et al. demonstrated that kindlin-1 is expressed in healthy oral mucosa, colon and rectum [15]. Severe intestinal involvement with haemorrhagic diarrhoea and features of severe ulcerative colitis has been described [15,16]. In some of these patients, histology revealed focal detachment of the epithelieum in all segments of the colon, chronic inflammation and mucosal atrophy. Urethral strictures and vaginal stenosis have been reported. Eye involvement occurs with ectropion, keratoconjunctivitis or conjunctival scarring. Squamous cell carcinoma has been reported in two adult patients [17,18].


Prognosis.


Life expectancy is normal.


Differential Diagnosis.


This includes other genodermatoses that exhibit poikiloderma and conditions with skin fragility. In 1971, Peyton Weary described hereditary acrokeratotic poikiloderma in 10 members of a family group with bullae of the hands and feet, gradual onset of poikiloderma (sparing the face) and keratotic papules with an autosomal dominant inheritance [19]. Subsequently, several cases were reported in the literature as Kindler–Weary syndrome. However, the conditions can be distinguished based on the following differences: in Weary’s original cohort, bullae were not congenital, photosensitivity was absent, there was no mucosal involvement and the inheritance was autosomal dominant.

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Apr 26, 2016 | Posted by in Dermatology | Comments Off on 119 Kindler Syndrome
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