Name of disease
Kindler Syndrome (Type of Epidermolysis Bullosa)
Symptoms
- Fluid-filled blisters on the skin, especially on the hands and feet due to friction
- Deformity or loss of fingernails and toenails
- Internal blistering, including on the vocal cords, esophagus and upper airway
- Skin thickening on the palms and the soles of the feet
- Scalp blistering, scarring and hair loss (scarring alopecia)
- Thin-appearing skin (atrophic scarring)
- Tiny white skin bumps or pimples (milia)
- Dental problems, such as tooth decay from poorly formed enamel
- Difficulty swallowing (dysphagia)
Life expectancy is normal.
Treatments
Esophageal strictures can be treated by balloon dilatation with fluoroscopic guidance.
Picture
Reference
- http://www.medicinenet.com/epidermolysis_bullosa_eb/article.htm
- http://www.mayoclinic.org/diseases-conditions/epidermolysis-bullosa/basics/causes/con-20032497
- http://emedicine.medscape.com/article/1118967-overview
- http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2908