List of cutaneous conditions caused by problems with junctional proteins
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.
| 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 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[]
- ^ M, Orne, Charisse; S, Hale, Christopher; A, Meehan, Shane; Marie, Leger (2015-01-01). "Pemphigus foliaceus". Dermatology Online Journal. 20 (12).
- ^ 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.
Categories:
- Cutaneous conditions
- Dermatology-related lists