Kindler Syndrome Clinical Presentation

Updated: Aug 17, 2015
  • Author: Anatoli Freiman, MD, FRCPC, DABD; Chief Editor: Dirk M Elston, MD  more...
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Presentation

History

The hallmark of Kindler syndrome is congenital blistering and photosensitivity, combined with progressive poikiloderma and diffuse cutaneous atrophy. Both blistering and photosensitivity begin in infancy or early childhood and improve significantly with age. The poikiloderma appears gradually and becomes more prominent later in life. Some patients develop sclerodermoid changes of the fingers and nails. Recurrent trauma-induced blister formation occurs primarily on hands and feet, which may prompt an incorrect diagnosis of epidermolysis bullosa.

Photosensitivity can manifest as increased susceptibility to sunburn. Additionally, patients with Kindler syndrome frequently have poor dental hygiene and dental problems.

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Physical

Diffuse poikiloderma (reticular telangiectasia, patchy hypopigmentation and hyperpigmentation, epidermal atrophy), skin fragility, and atrophic changes (cigarette paper–like wrinkled appearance of the skin) are most prominent in sun-exposed areas, most commonly on the dorsal surfaces of the hands and feet.

During the neonatal period and early childhood, acral blisters and bullae are seen in trauma-prone areas.

Dental abnormalities occur commonly in affected persons and include advanced periodontal bone loss, mild-to-severe gingivitis, dental caries, and leukokeratosis of buccal mucosa. In one study, 13 of 18 patients with the syndrome had marked periodontal disease. [5]

Less common and variable features of the syndrome include pitted or punctate palmoplantar hyperkeratosis (≤65% of individuals), webbing of fingers and toes, nail dystrophy, and, in one case report, abnormal skeletal maturation.

Mucosal involvement is frequent and leads to urethral, anal, and esophageal stenosis.

Ophthalmic abnormalities have also been described in some patients and include ectropion, keratoconjunctivitis, and conjunctival scarring.

Early development of actinic keratoses may occur. Squamous cell carcinoma of the lower lip and transitional cell carcinoma of the bladder have also been reported in one patient with Kindler syndrome.

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Causes

Kindler syndrome has been shown to result from mutations in the KIND1 gene on band 20p12.3 (see Pathophysiology). An autosomal recessive pattern of transmission has been reported, but sporadic cases are common, with many originating in consanguineous families. Variable expressivity within families has also been documented. Mutations in the gene encoding type VII collagen (COLA7A1) have been excluded, distinguishing Kindler syndrome from dystrophic epidermolysis bullosa.

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