List of cutaneous conditions caused by problems with junctional proteins

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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.

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[1]
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[2]

Desmoglein 4 Localized autosomal recessive hypotrichosis
Autosomal recessive monilethrix
Desmoplakin Striate palmoplantar keratoderma
Carvajal syndrome
Skin fragility–wooly hair syndrome
Lethal acantholytic epidermolysis bullosa
Paraneoplastic pemphigus
Stevens–Johnson syndrome
Plakoglobin Naxos disease
Striate palmoplantar keratoderma
Plakophilin 1 Ectodermal dysplasia–skin fragility syndrome
Plakophilin 2 ARVD
Corneodesmosin Hypertrichosis simplex of the scalp

See also[edit]


  1. ^ M, Orne, Charisse; S, Hale, Christopher; A, Meehan, Shane; Marie, Leger (2015-01-01). "Pemphigus foliaceus". Dermatology Online Journal. 20 (12).
  2. ^ Beigi, Pooya Khan Mohammad (2018). "Background". A Clinician's Guide to Pemphigus Vulgaris. Springer, Cham. pp. 3–10. doi:10.1007/978-3-319-67759-0_1. ISBN 9783319677583.
  • 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.