The Case of the Very Sick Sailor

I was asked to make check-out rounds with an internist eager to show me an interesting case -- one that provided an in-the-flesh look at a case he had confronted on his internal medicine board exam. He didn't have the benefit of pictures, which you will. Read on and good luck as you go through the clues…

Presentation:

21-year-old man presents with deep-seeded painful mouth ulcers x2-3 months; severe rash x4-5 days; arthralgias, blurred vision. No hx of STI.

Past medical history:

no allergies, skin disease, GI maladies; negative family hx for anything to suggest etiology of current illness.

Physical examination:

diffuse inflammatory dermatitis; painful genital lesions; severe dysuria; diffuse inflammation of the palpebral and bulbar conjunctiva, occasional headaches, dry eyes, and emotional lability.

Physical examination:

diffuse joint swelling, limited ROM due to pain; lesions in crops on oral mucosa.

Summary:

dysuria/genital ulcers suggestive of urethritis; ocular symptoms consistent with conjunctivitis; erosive dermatitis accompanied by arthritis; oral aphthous ulcers.

Diffuse plaque-like dermatitis more prominent over distal extremities; swollen joints.

Hands exhibit deep ulcers, some coalesced into plaques. Cuticle inflammation and bleeding under nails suggestive of a vasculitis.

Noted on feet also are deep individual ulcers; feet are swollen to the point of skin cracking and peeling.

Differential diagnosis:

psoriasis, ulcerative colitis, SLE, sarcoidosis, Behçet's syndrome, herpes simplex, Reiter’s syndrome.

Ophthalmology consult:

poor visual acuity; elevated white cells on slit lamp exam; vitritis, retinal vasculitis, intraretinal hemorrhage.

Dermatology consult:

chronic aphthous ulcers; peripheral punctate ulcers on hands/feet have coalesced into plaques; painful nodules over fibula compatible with erythema nodosum.

Rheumatology:

recommended pathergy and provided a check list-type guide to diagnosis of the condition she highly suspected.

Differential diagnosis:

psoriasis, ulcerative colitis, SLE, sarcoidosis, Behçet's syndrome, herpes simplex, Reiter’s syndrome.

Diagnois: Behçet's syndrome

Beçhet’s syndrome, aka Silk Road disease,

is a rare vasculitic disease characterized by a triple-symptom complex of recurrent oral aphthous and genital ulcers, and uveitis.

Number of cases per 100,000 population each year (from 2012 census of American Behçet's Disease Assoc.) In the United States the incidence is 0.12-0.3.

Behçet's Disease clinical manifestations:

oral aphthosis: >95%; genital aphthosis: 60–90%; skin-pseudofolliculitis/erythema nodosum: 40–90%; ocular-uveitis/retinal vasculitis: 45–90%.

The highest morbidity/mortality in patients with thrombosis and/or CVD complications; most common in young population, mean age 25-30y. Etiology mostly unknown.

Mucocutaneous signs:

oral and genital ulcers, pathergy, pustules, macules, papules, erythema nodosum-like lesions. Oral ulcers are initial symptom in 60-70% of cases.

Ocular findings (all have been reported):

scleral/corneal involvement; conjunctival aphthous lesions; synechiae or posterior segment lesions; retinal hemorrhages/exudates.

When the syndrome begins in one eye, it becomes bilateral in 50% of cases within one year and in 80% within two years.

Treatment:

“The aim of treatment in Behçet disease is to prevent irreversible damage that mostly occurs early in the course of disease … and to prevent exacerbations of mucocutaneous and joint involvement, usually not causing damage but affecting quality of life.”