List of cutaneous conditions caused by problems with junctional proteins

This article provides a comprehensive list of cutaneous conditions that are caused by problems with junctional proteins. Junctional proteins play a crucial role in maintaining the integrity and function of various tissues, including the skin. Any disruption or malfunction of these proteins can lead to a wide range of dermatological disorders. This list aims to provide an overview of such conditions, along with brief descriptions and relevant information.

Epidermolysis bullosa

Epidermolysis bullosa (EB) is a group of genetic disorders characterized by blistering and fragility of the skin and mucous membranes. It is caused by mutations in genes encoding various junctional proteins, such as collagen VII, laminin-332, and integrins. EB can be classified into several subtypes, including junctional EB (JEB), which specifically involves defects in junctional proteins. JEB is further categorized into Herlitz JEB and non-Herlitz JEB, depending on the severity of symptoms.

Pemphigus

Pemphigus is a group of autoimmune blistering disorders that primarily affect the skin and mucous membranes. It is characterized by the presence of autoantibodies against desmogleins, which are desmosomal junction proteins responsible for cell-cell adhesion in the epidermis. Pemphigus can be further classified into several subtypes, including pemphigus vulgaris, pemphigus foliaceus, and paraneoplastic pemphigus.

Pemphigoid

Pemphigoid is another group of autoimmune blistering disorders that primarily affect the skin and mucous membranes. It is characterized by the presence of autoantibodies against various components of hemidesmosomes, which are junctional proteins responsible for anchoring the epidermis to the underlying dermis. Pemphigoid can be further classified into several subtypes, including bullous pemphigoid, mucous membrane pemphigoid, and cicatricial pemphigoid.

Kindler syndrome

Kindler syndrome is a rare genetic disorder characterized by skin fragility, blistering, and photosensitivity. It is caused by mutations in the FERMT1 gene, which encodes a protein involved in the formation of focal adhesions and hemidesmosomes. The dysfunction of these junctional proteins leads to the characteristic features of Kindler syndrome, including skin atrophy, scarring, and increased risk of skin cancer.

Lethal acantholytic epidermolysis bullosa

Lethal acantholytic epidermolysis bullosa (LAE) is a severe form of epidermolysis bullosa that is caused by mutations in the desmoplakin gene. Desmoplakin is a key component of desmosomes, which are junctional complexes responsible for cell-cell adhesion in the epidermis. The loss of desmoplakin function leads to widespread blistering, skin erosions, and often results in early death due to complications.

Ectodermal dysplasia-skin fragility syndrome

Ectodermal dysplasia-skin fragility syndrome is a rare genetic disorder characterized by skin fragility, blistering, and abnormalities in hair, teeth, and nails. It is caused by mutations in the PKP1 gene, which encodes a protein involved in the formation of desmosomes. The dysfunction of desmosomes disrupts the integrity of the epidermis, leading to the characteristic features of this syndrome.

See also

• Epidermolysis bullosa simplex
• Dystrophic epidermolysis bullosa
• Junctional epidermolysis bullosa
• Desmosome
• Hemidesmosome

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