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- Presentation
S010: Clinicopathologic Self-Assessment
Description
In this clinical presentation, several dermatologic cases are reviewed, starting with a 67-year-old woman with rheumatoid arthritis who struggled with itchy, painful skin lesions on her legs and arms. Despite treatments, including oral Prednisone, she flared after discontinuation. A biopsy revealed a subepidermal blister, leading to the diagnosis of hereditary epidermolysis bullosa. The second case involved an 8-year-old boy with severe combined immunodeficiency post-gene therapy, who developed reddish-brown lesions. Pathology indicated a CD34-positive dermal dendrocyte hematoma, a rare complication following immunotherapy. Lastly, a 4-year-old boy presented with a painless mobile skin nodule, ultimately identified as a low-grade fibromyxoid sarcoma after molecular testing. These cases emphasize the importance of accurate diagnosis through biopsies, immunostaining, and molecular testing to guide appropriate management and treatment, particularly in unusual presentations among pediatric patients.
View moreConclusions
- A 67-year-old woman with rheumatoid arthritis and chronic skin lesions was diagnosed with Dominant Dystrophic Epidermolysis Bullosa Pruriginosa after extensive testing.
- The biopsy revealed characteristic subepidermal blisters and led to specific genetic testing for further confirmation.
- The case emphasizes the importance of considering rare conditions when common treatments fail and biopsy results are negative.
- Dupilumab showed significant clinical improvement in the patient suffering from a rare skin disorder, indicating its potential as a treatment option.
- In cases of severe combined immunodeficiency syndrome, patients can present with unique cutaneous manifestations that may mimic other conditions, necessitating careful differential diagnosis.
- A 4-year-old boy developed a slow-growing skin nodule diagnosed as a low-grade fibromyxoid sarcoma, highlighting the need for timely biopsies in children.
- This research reinforces the critical need for accurate diagnoses and consideration of genetic predispositions in pediatric patients with tumors.
- William Boyd, MD, Pathologist, 1885-1979
- William Osler
- Clawson, 2021
- Leona A. Doyle, MD, Emely Möller, PhD, Paola Dal Cin, PhD, Christopher D.M. Fletcher, MD, FRCPath, Fredrik Mertens, MD, PhD, and Jason L. Hornick, MD, PhD, (Am J Surg Pathol 2011:35:733-741)