List of cutaneous conditions caused by problems with junctional proteins

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2025-03-05 12:14

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Mutations of proteins that hold the cells of the skin together can cause disease. Autoantibodies against proteins that hold the cells of the skin together can also cause disease.

List

Conditions caused by mutations in or antibodies against junctional proteins found within the epidermis of the human integumentary system

Junctional protein	Condition(s)
Desmocollin 1	Subcorneal pustular dermatosis type of IgA pemphigus
Desmocollin 2	Arrhythmogenic right ventricular dysplasia (ARVD)
Desmoglein 1	Striate palmoplantar keratoderma Pemphigus foliaceous Bullous impetigo Staphylococcal scalded skin syndrome Fogo selvagem Pemphigus erythematosus Mucocutaneous pemphigus vulgaris
Desmoglein 2	ARVD
Desmoglein 3	Mucosal pemphigus vulgaris Pemphigus vegetans Mucocutaneous pemphigus vulgaris
Desmoglein 4	Localized autosomal recessive hypotrichosis Autosomal recessive monilethrix
Desmoplakin	Striate palmoplantar keratoderma Carvajal syndrome Skin fragility–wooly hair syndrome Lethal acantholytic epidermolysis bullosa ARVD Paraneoplastic pemphigus Stevens–Johnson syndrome
Plakoglobin	Naxos disease Striate palmoplantar keratoderma ARVD
Plakophilin 1	Ectodermal dysplasia–skin fragility syndrome
Plakophilin 2	ARVD
Corneodesmosin	Hypertrichosis simplex of the scalp

See also

• List of keratins expressed in the human integumentary system
• List of target antigens in pemphigus
• List of immunofluorescence findings for autoimmune bullous conditions
• List of cutaneous conditions
• List of genes mutated in cutaneous conditions
• List of histologic stains that aid in diagnosis of cutaneous conditions
• Keratoderma

References

• Bolognia, Jean L.; et al. (2007). Dermatology. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
• James, William D.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.