Case Study: Dystrophic epidermolysis bullosa

This case study gives students the opportunity to review the following topics: transcription and translation, organelles involved in protein synthesis, primary tissue types, and integumentary system.

Before class, students prepare to engage with a realistic experience by reading a short patient story. Students review specific topics related to the integumentary system, epithelial tissues, basement membranes, and cellular junctions. Students are encouraged to read through the patient brief and consider the targeted questions before class.

In this case scenario, students work together to answer the patient’s questions and explain how a mutation in a single gene is responsible for the patient’s symptoms.

In Part A, students are introduced to the wild-type and mutated gene variants. Students are asked to translate the gene variants and discuss the impact of mutations on protein function. In Part B, students solve a tarsia puzzle where they match tissue types and categories with their appearance or function. In Part C, students examine and identify the structures of the integumentary system. While student work together, the instructor pauses several times to review their progress, solves the puzzles, and answers the discussion questions before the class moves on to the next part.

Finally, students take the remaining 30-40 minutes to work together to complete Part D, where they apply their learning to answer questions regarding the case. These responses allow them to integrate the content from each of the previous parts into a coherent and comprehensive understanding of tissues and the integument.

• Define the study of anatomy and physiology and describe the hierarchical organization of the human body into chemicals, cells, tissues, organs and systems.
• Describe the structure and functions of the animal cell.
• Outline the basic principles of cell processes involved in maintenance and repair: cell respiration, protein synthesis and cell division.
• Describe and recognize examples of the major types of human tissues.
• Define the integumentary system, list its components and describe their roles in homeostasis.
• Describe the structure and function of the epidermis, dermis and hypodermis.