Etiology • A multisystem disease secondary to an immunodysfunction
associated with certain HLA subtypes • HLA-Bw51 clusters in those of Middle Eastern and Northern
Asian descent • HLA-B12 noted more in those of European and North
American descent, with mucocutaneous presentation
Clinical Presentation • Classic signs noted in the oral cavity, eye, and genitalia • Painful, sometimes debilitating, oral and genital aphthous ulcers • Ocular lesions: painful conjunctivitis, uveitis, iritis, retinitis,
associated with certain HLA subtypes • HLA-Bw51 clusters in those of Middle Eastern and Northern
Asian descent • HLA-B12 noted more in those of European and North
American descent, with mucocutaneous presentation
Clinical Presentation • Classic signs noted in the oral cavity, eye, and genitalia • Painful, sometimes debilitating, oral and genital aphthous ulcers • Ocular lesions: painful conjunctivitis, uveitis, iritis, retinitis,
and hypopyon • Cutaneous signs include the following:
• Erythema nodosum–like lesions • Pustular folliculitis • Thrombophlebitis • Acneiform eruptions
• Positive pathergy sign is characteristic: sterile pustule at site of sterile intradermal saline injection 48 hours prior
• Other systems, usually secondary to vasculitis, may be involved in the following manner: • Central nervous system (headache, paralysis,
meningoencephalitis) • Gastrointestinal problems (diarrhea, inflammatory bowel
disease) • Vascular thrombosis, hematologic and other organ system
manifestations
Diagnosis • Oral aphthous ulcerations occurring at least three times per
year in association with characteristic manifestations within other systems (ocular, genital, cutaneous problems)
Differential Diagnosis • Erythema multiforme • Reiter’s syndrome • Crohn’s disease • Mucous membrane (cicatricial) pemphigoid • Vulvovaginal-gingival variant of erosive lichen planus
Treatment • Systemic corticosteroids • Immunosuppressive drugs (eg, interferon, TNFα inhibitors)
• Azathioprine, cyclosporine, chlorambucil, methotrexate • Thalidomide has been proven helpful. • Dapsone and colchicine may be of value in some cases.
Prognosis • Chronic • Manageable