Bullous Pemphigoid in X-linked Alport Syndrome

Abstract

Skin lesions in X-linked Alport syndrome (XLAS) are rarely observed. Bullous pemphigoid (BP) is caused by autoantibodies against BP180, also called α1 (XVII) chain, in the basement membrane zone (BMZ). A 48-year-old man with XLAS developed tense blisters. A skin biopsy showed a cleft between the basal cell layer and dermis, with the infiltration of neutrophils and eosinophils. α1 (XVII) staining was positive on the epidermal side of α2/5 (IV) staining. Oral prednisolone improved his symptoms gradually. Abundant tense blisters on the palms and soles might suggest an important role of the α5 (IV) chain in the integrity of BMZ.

Pemphigoid diseases in patients with end-stage kidney diseases: pathogenesis and treatment

“…First, components shared by the basement membrane zone (BMZ) and the glomerular basement membrane (GBM), acting as autoantigens, may induce autoantibodies. For instance, two cases of pemphigoid diseases comorbid with Alport syndrome, a genetic kidney disease characterized by abnormal type IV collagen, were reported ( 56 , 57 ). Type IV collagen is typically localized to the base of BP blisters.…”

Alport Syndrome and Oral Mucous Membrane Pemphigoid: An Interesting Case

“…The literature shows a case report of bullous pemphigoid in an XLAS male patient [ 1 ]. The main similarity between this case and ours is the kidney disease due to AS, whereas the differences include the sex, age, and ethnicity of the patient, the type of pemphigoid disease (a 48 years old Japanese male with bullous pemphigoid versus a 26 years old greek female with mucous membrane pemphigoid) as well as the fact that our female patient eventually required kidney transplantation, The differential diagnosis mainly included lichen planus, pemphigus diseases and pemphigoid diseases including the drug-induced pemphigoid mainly due to immunosuppressants (the literature involves, from the drugs prescribed to the patient, in the pathogenesis of drug-induced pemphigoid the immunosuppressive drugs everolimus and sirolimus (analogs of tacrolimus) as well as the proton pump inhibitor omeprazole) [ 19 ].…”

“…Alport syndrome (AS) is a hereditary progressive glomerular disease associated with sensorineural hearing loss and ocular abnormalities [ 1 ]. It is attributed to the altered structure and the subsequent dysfunction of the glomerular basement membrane (GBM) due to the mutated type IV collagen a3/a4/a5 chains.…”

“…Oral mucosa, particularly buccal mucosa, soft palate, and lips, are the first to be affected in 90% of MMP patients, whereas skin lesions are uncommon in MMP and arise only after mucosal manifestation [ 18 ]. There have been no reports on the appearance of mucous membrane pemphigoid in AS patients, and an interesting case of bullous pemphigoid in an XLAS male patient was reported, with concurrent hearing loss and kidney dysfunction [ 1 ]. This case report aims to present an interesting case where a female AS patient exhibited mucous membrane pemphigoid after ESKD and kidney transplants.…”