Kindler syndrome is a rare form of epidermolysis bullosa, which represents a group of hereditary diseases characterised by particular fragility of the skin and mucosa, manifesting in the appearance of bullae in minor traumas.
We present the case of a 12-year-old girl who shows clinical elements characteristic of Kindler syndrome. The patient presents alterations of the skin in the extremities, face, neck, and torso, hypo- and hyperpigmentation, telangiectases and muscle atrophies, diffuse palmoplantar hyperkeratosis, photosensitivity. Also present are diseases of the nails and hair, dental dystrophies, growth retardations, mental retardation and chronic constipation secondary to anal stenosis. The onset of the symptoms was a few days after birth. The diagnosis was confirmed by skin biopsy.
It is important to know the multiple manifestations of Kindler syndrome in order to establish an early diagnosis and to ensure an adequate management, which requires education on photoprotection and permanent monitoring of orodental complications, skin and mucosa malignancies and esophageal, anal and urethral stenoses.
- Kindler syndrome
- anal stenosis
- skin biopsy
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