Inherited epidermolysis bullosa: Case report of finger localization
A.N. is a 27-year-old woman. She was seen in consultation in April 2008 in the Orthopaedic Surgery Department for a stricture of her left 4th finger.\nShe reported that the condition was observed at birth with spontaneous appearance of diffuse cutaneous blisters that ruptured. They left crusts and then skin scars.\nShe came from a family of 7 children in which 4 girls had this condition. One of them died when she was 14 years old. Another affected sister presented with a minimal form of the disease with only oral cavity involvement. The third affected sister is handicapped with reduced mobility. Two brothers and a sister are free of disease. The father who has remarried has a daughter who is not affected. The family tree summarizes the family history [].\nThere is no suggestion of parental consanguinity: the parents originally are from the same village. No known family history is found on either side of the family.\nThe patient's hands showed generalized erythematoid, crusting blisters and cutaneous atrophy. The skin was ichthyotic with sparing of the face and plantar surfaces of hands and feet. Nail dystrophy was seen. There was a stricture of the left 4th finger and thumb adduction. This stricture caused very severe pain. She also suffered from dysphagia which prevented good nutrition and therefore she was quite thin. She developed conjunctival involvement in the last month for which she is being treated. In summary, this patient showed signs of dystrophic epidermolysis bullosa of the Hallopeau-Siemens subtype.\nSurgical treatment was limited to the hands; her cutaneous lesions were treated by dermatologists. Surgical treatment began in January 2009 with removal of the stricture ring from the left 4th finger and repair of tissue loss by a double Hueston flap. This was completed with thin skin graft taken from the hypothenar eminence [Figures and ]. Healing was achieved in 3 weeks. Recurrence occurred 2 months later in November 2010. She was operated again in January 2011.\nHer left 5th finger was operated similarly as in February 2009 and closed by a Hueston flap with a superior pedicle. It healed in 2 to 3 weeks but recurred in June 2011. She was re-operated in September 2011 [Figures and ].\nAt the present time this young woman has presented with stricture of the right 5th finger that is very painful [Figures and ]. She underwent the same surgical procedure in March 2012. Postoperative care is in progress. She has been operated on 5 times between January 2009 and March 2012.