Child with recessive dystrophic epidermolysis bullosa shows | Figure 1

CincyKidsRad

Cincinnati Children's Radiology


Child with recessive dystrophic epidermolysis bullosa shows a sock deformity of the toes

Radiographs of the foot in a child with recessive dystrophic epidermolysis bullosa shows a sock deformity of the toes. Patients with this severe form of epidermolysis bullosa have repeated skin injuries which leads to epithelialization and scar formation causing the mitten configuration of the hands and sock configuration of the feet. Epidermolysis bullosa is caused by the decreased or absent collagen within the skin.


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This girl from Guatemala has #dystrophic-epidermolysis-bullosa and cleanliness is crucial as there is a high risk of infection. The water available to her is untreated and usually contaminated. Her family has no bathroom so she is washed by her mother using a washcloth and pail while sitting on a stool. Her skin is dressed using the dressings donated by AmeriCares. Vaseline or hydrocerin is used to keep the dressings from sticking and pulling off more skin. When the dressing supplies run out, her family use strips of newspaper.



Possibly Epidermolysis bullosa, pt is 4 yr old boy, country currently lacks infrastructure and supplies to confirm Dx with immunofluorescence



A girl with widespread ulcers was diagnosed with recessive dystrophic epidermolysis bullosa at infancy by detection of the compound heterozygous mutations c.6573+1G>C and c.8109+2T>A in COL7A1 (a). Focal skin depressions appeared on her extremities at age 11 years (b) and gradually worsened over the course of 4 years (c). T1-weighted magnetic resonance imaging revealed thinning of subcutaneous fat tissue (d). She has no family history of lipodystrophy. Blood tests and clinical manifestations ruled out diabetes mellitus, lupus erythematosus or panniculitis. We diagnosed multiple localized lipoatrophy. Trauma can cause lipodystrophy; however, this is the first reported case of lipoatrophy associated with epidermolysis bullosa.



7 yo Epidermolysis Bullosa patient dental rehab under general anesthesia. Very tricky to ensure we don't cause further damage to skin which can cause severe blisters. Fiberoptic intubation. Note scarring of the mouth and limited opening. Note protection of all exposed skin using coconut oil.