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Skin Case Study Analysis

Skin Case Study Analysis

Layers of the Skin

The skin has five main layers: the stratum corneum, which is the outermost layer of the skin; the stratum lucidum, present in areas such as palms and soles; the stratum granulosum, which waterproofs the skin; the stratum spinosum, which ensures strength and flexibility of the skin, and the stratum germinativum, which is the innermost layer and support growth of new skin (Lawton, 2019).

The Four Cell Junctions

The four cellular junctions include the tight junctions, which form a barrier between cells to prevent the leakage of substances between the cells; the desmosomes, responsible for structural stability and resistance from mechanical stress; the gap junctions, which enable direct communication between cells and allow the exchange of ions and small molecules; and the hemidesmosomes, which act as anchors for cells to the extracellular matrix (Saladin, 2021, p. 160).

The Function of the Plakophilin Gene

The function of the plakophilin gene is to act as a regulator for signaling programs and control various processes within cellular junctions, especially the desmosomes, which support cell-to-cell adhesion and maintain tissue integrity in the myocardium (Hofmann, 2020).

How Plakophilin Gene Mutations Disrupt Cell-to-Cell Interactions

Plakophilin gene mutations affect the functionality of plakophilins responsible for the formation of stable desmosomes, which maintain cell-to-cell adhesion. Dysfunctional desmosomes due to gene mutations can compromise the adhesion between cells due to poor cell integrity (Hofmann, 2020).

How Plakophilin Gene Mutations Lead to Hyperhidrosis

The mutations in the plakophilin gene, as noted above, may affect cell-to-cell adhesion and cellular integrity. Such gene mutations may lead to the development of epidermolysis bullosa and the disruption of sweat gland function, thereby leading to hyperhidrosis.

References

Hofmann, I. (2020). Plakophilins and their roles in diseased states. Cell and Tissue Research, 379(1), 5–12. https://doi.org/10.1007/S00441-019-03153-0

Lawton, S. (2019). Skin 1: The structure and functions of the skin. Nursing Times, 115(12), 30–33. https://www.nursingtimes.net/clinical-archive/dermatology/skin-1-the-structure-and-functions-of-the-skin-25-11-2019/

Saladin, K. S. (2021). Anatomy and physiology: The unity of form and function. McGraw-Hill Education.

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Question 


Scenario/Summary
Steven and Brenda had eagerly anticipated the birth of their first child, a boy named Garth. The first year was joyous and Garth grew normally with no apparent problems other than some trauma-induced blistering of the skin.

By Garth’s third birthday, Brenda noticed that his nails showed some deformities. She mentioned this to his pediatrician during his annual physical but since there were no other problems, the physician decided to just watch the condition and to keep a record of what Garth was doing.

Skin Case Study Analysis

At four, Garth exhibited thickening of the palms and soles of the feet and gradual loss of the eyebrow hair. His lovely thick eyelashes were also becoming sparse. By age five, hyperhidrosis over the nose and cheeks was observed.

Garth was referred to a dermatologist for follow up where he was determined to have a genetic mutation in the plakophilin gene resulting in a condition known as epidermolysis bullosa a form of ectodermal dysplasia.

Deliverables
Answer the following questions and save your responses in a Microsoft Word document. Provide a scholarly resource in APA format to support your answers.

Describe the five different layers of the skin.
Describe the four different cell junctions.
What is the purpose of the plakophilin gene?
How would mutations in the plakophilin gene disrupt cell-to-cell interactions?
How would mutation in the plakophilin gene lead to hyperhidrosis?

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