[Recessive dystrophic epidermolysis bullosa (Hallopeau-Siemens) with IgA nephropathy: 4 cases].
BACKGROUND
The Hallopeau-Siemens type of recessive dystrophic epidermolysis bullosa (HS-RDEB) is a severe hereditary dermatosis, associated with a collagen VII deficiency. A chronic inflammatory syndrome, secondary to recurrent cutaneous infections, may be the cause of AA amyloidosis, with chronic renal failure, involving life prognosis. Less frequently, an IgA glomerulonephritis may occur and induce renal failure. Only two cases have been previously described. We report herein four new cases.


METHODS
We report four cases of HS-RDEB associated with IgA glomerulonephritis. A renal biopsy confirmed the diagnosis in all four cases. Later on, two patients had a second renal biopsy, indicated for deterioration of renal function. One of these patients showed AA type renal amyloidosis on the second biopsy. None of these six biopsies, conducted in our four patients led to local cutaneous complications. Subsequently three patients presented with terminal renal failure. Hemodialysis was set up, with good tolerance and improvement in quality of life.


CONCLUSIONS
IgA glomerulonephritis should be suspected if a patient with HS-RDEB presents with hematuria. Renal biopsy is not contraindicated, confirms the diagnosis and helps to specify the prognosis. Hemodialysis is possible and well tolerated in the terminal stage of renal failure. There is not enough evidence for a genetic link between HS-RDEB and IgA glomerulonephritis, but repeated skin infections may be involved in the pathophysiology of the renal disease.
Farhi
D
D
Service de Dermatologie 1, Hôpital Saint-Louis, Paris.
Ingen-Housz-Oro
S
S
Ducret
F
F
Rioux-Leclercq
N
N
Cam
G
G
Simon
P
P
Martinez
F
F
Fumeron
C
C
Dubertret
L
L
Blanchet-Bardon
C
C
D000328:Adult; D001706:Biopsy; D016108:Epidermolysis Bullosa Dystrophica / Q000150:complications* / Q000473:pathology; D005260:Female; D005922:Glomerulonephritis, IGA / Q000209:etiology*; D006801:Humans; D007668:Kidney / Q000473:pathology; D008297:Male; D008875:Middle Aged; D006435:Renal Dialysis; D051437:Renal Insufficiency / Q000209:etiology / Q000628:therapy; D016896:Treatment Outcome