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Kindler syndrome in Adult
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Kindler syndrome in Adult

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Contributors: Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH
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Synopsis

Kindler syndrome is a rare genodermatosis with autosomal recessive inheritance marked by skin fragility and bulla formation in sites of trauma. Blisters are typically noted soon after birth or in early infancy, and there is a predilection for acral sites. Photosensitivity, with resultant erythema, burning, and blistering is also a near universal feature of the syndrome, presenting in early infancy in some patients, though more commonly after the age of 2. Blistering and photosensitivity tend to diminish in severity in adolescence.

Another hallmark feature is progressive poikiloderma, particularly prominent on the sun-exposed skin, developing more commonly in childhood, though it has been noted in infants as young as 6-8 months. Other potential findings include cutaneous atrophy, hyperkeratosis of the palms and soles, joint laxity, severe periodontal disease, ectropion, webbing of the toes and fingers, nail dystrophy, esophageal and urethral stenosis, and phimosis, though these findings are typically sequelae seen later in childhood or adulthood.

Distinguishing Kindler syndrome from other inherited blistering disorders and congenital poikilodermas with photosensitivity on clinical findings can be difficult, requiring histology with immunostaining, electron microscopy, and gene mutation studies. Kindler syndrome has been linked to mutations in KIND1, which encodes for kindlin-1, a protein thought to connect the actin cytoskeleton to the extracellular matrix.

For more information, see OMIM.

Related topics: Epidermolysis bullosa simplex, Generalized severe epidermolysis bullosa simplex, Junctional epidermolysis bullosa, Dystrophic epidermolysis bullosa, Epidermolysis bullosa acquisita

Codes

ICD10CM:
Q81.8 – Other epidermolysis bullosa

SNOMEDCT:
238836000 – Kindler syndrome

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Last Updated: 08/31/2018
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Kindler syndrome in Adult
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Kindler syndrome : Photophobia, Burning skin, Photosensitivity, Poikilodermatous, Skin atrophy, Vesicles
Clinical image of Kindler syndrome
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