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- Presentation
S010 - Clinicopathologic Self-Assessment
Description
In this presentation, Dr. Maya Carew discusses two cases focusing on dermatological conditions. The first case involves a 34-year-old male exhibiting diffuse erythematous scaly plaques, leading to a histopathological exploration. The findings suggest a diagnosis of Pityriasis Rubra Pilaris (PRP) based on the presence of parakeratosis and preserved granular layers, contrasting with psoriasis, which features confluent neutrophils and hypo-granulosis. Dr. Carew emphasizes the genetic involvement of the CARD14 gene in PRP, noting that conventional treatments often fail. The second case features a 61-year-old female with a history of autoimmune disease who presents with ear pain and redness diagnosed through biopsy, revealing a mononuclear cell infiltrate. Immunohistochemistry indicated positivity for markers related to Lymphoma, particularly DUSP22R4 rearrangement, which is associated with Anaplastic Large Cell Lymphoma (ALCL). Dr. Carew concludes with a discussion on various mutations linked to skin conditions and the challenges in treating them, highlighting the importance of accurate diagnosis and understanding genetic factors within these cases.
View moreConclusions
- Heterozygous mutations in CARD14 lead to CARD14 papulosquamous eruption, which shows features of both psoriasis and pityriasis rubra pilaris (PRP).
- Conventional therapies such as methotrexate, oral retinoids, and TNF-alpha inhibitors are generally ineffective for CARD14 papulosquamous eruption.
- Early onset of the disease typically occurs before one year of age and facial involvement is common.
- Clinical presentations may vary significantly, with involvement of the trunk and extremities being more variable than in psoriasis or PRP.
- Histopathological features, such as checkerboard parakeratosis, help differentiate CARD14-associated conditions from psoriasis and PRP.
- Family history of psoriasis or PRP can indicate a predisposition to CARD14-associated papulosquamous eruption.
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