Case data
A 31-year-old female patient with a history of systemic lupus erythematosus, perianal condyloma acuminatum, and chronic iron-deficiency anemia presented intermittent hematochezia, multiple pains in the anogenital area, and skin ulcers under the left breast February, heart palpitations for 2 days.
The patient reported having chronic perianal foul-smelling discharge, but denied any fever, nausea, vomiting, abdominal or perianal pain, melena or changes in bowel habits. The patient underwent upper gastrointestinal endoscopy and colonoscopy 3 years ago and the results showed normal esophagus, stomach and duodenum, but with multiple rectal and sigmoid polyps and internal and external hemorrhoids strong>. A duodenal biopsy showed a mild increase in intraepithelial lymphocytes, but the villous structure was preserved. Colon polyp biopsy showed chronic active colitis with minimal structural deformation and superficial ulceration. Cytomegalovirus immunostaining was negative. No targeted treatment was given at that time. The patient’s past medical history also included antiphospholipid antibody syndrome and IgA nephropathy. Treatment included aspirin 81 mg and hydroxychloroquine 200 mg twice daily. The patient had sinus tachycardia but normotensives. Skin examination revealed exudative ulceration with erythema and hypertrophy of left submammary skin (Panel A), bilateral groin ulcerated flesh-colored linear plaques With erythematous verrucous papules (Figures B and C). Similar lesions were observed on the mons pubis and labia majora of the patient. Perianal examination revealed multiple ulcerative sarcoid lesions with foul-smelling yellow discharge (Figure D).
Skin tags and external hemorrhoids with distal rectal strictures. Laboratory tests showed c-reactive protein of 58.7 mg/dL and hemoglobin of 6.8 g/dL, and the patient received a blood transfusion. Pelvic magnetic resonance imaging with intravenous contrast medium showed 3 perianal fistulas and proctitis with honeycomb-like changes. Colonoscopy revealed erythematous, edematous, and friable rectal mucosa with openings associated with internal fistula openings and severe rectal strictures. Anorectal biopsy revealed a squamous mucosal ulcer with mixed acute and chronic inflammation. A subsequent biopsy of the patient’s left submammary skin ulcer is shown in Figures E-G.
What should be the diagnosis?
Analytical Diagnosis
Left lower breast skin biopsy revealed Granulomatous dermatitis with focal ulceration, pseudoepithelioma-like hyperplasia, dense hyperkeratosis, thickening of the granular layer, and spongiosis (Panel E), mixed dermal inflammatory infiltrate (Panel F), including neutrophils, Plasma cells, lymphocytes, and histiocytes with scattered multinucleated giant cells (Panel G). Fungal and acid-fast stains were negative.
According to the patient’s overall clinical presentation, multidisciplinary physicians collectively indicated that there is a high concern for metastatic Crohn’s disease (MCD) and new fistula and Stenotic Crohn’s colitis with perianal disease manifestations.
Diagnosis: MCD.
Knowledge Class: MCD
MCD is a A rare extraintestinal manifestation of Crohn’s disease that can occur at any point in the course of the disease, its relationship to underlying Crohn’s disease severity is unclear. MCD often presents as erythematous ulcers or well-circumscribed plaques or papules, usually involving the face, trunk, vulva, penis, or legs.
typical histological features of MCD include noncaseating epithelioid granulomas , Langhans giant cells and inflammatory infiltrates composed of epithelioid histiocytes. Although granulomatous dermatitis is a unique feature of MCD, it is also associated with other diseases, such as mycobacterial infection and primary or drug-induced sarcoidosis.
MCD lesions are often chronic and, if left untreated, can lead to significant physical and psychosocial illness. A variety of drugs have been used to treat MCD with varying success rates, but no reliable and effective treatment has yet been found. These drugs include topical or systemic corticosteroids, metronidazole, immunomodulators (such as methotrexate or azathioprine), and biologics. In refractory cases, surgical resection with debridement may be required.
References: Kuang AG, Bahdi Fenter, Shukla R. 2022). doi: https://doi.org/10.1053/j.gastro.2021.12.267.