ArticleThe Journal of investigative dermatology2012
Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations.
Article in The Journal of investigative dermatology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 79 citations in OpenAlex.
- Porokeratotic Eccrine Ostial and Dermal Duct Nevus: A Report of Rare Late-Onset Solitary Lesion.Clinical, cosmetic and investigational dermatology · 2025Article
- Gap Junction Channelopathies and Calmodulinopathies. Do Disease-Causing Calmodulin Mutants Affect Direct Cell-Cell Communication?International journal of molecular sciences · 2021Review
- Linear Hyperkeratotic Papules and Comedo-like Plugs on the Extremities: A Quiz.Acta dermato-venereologica · 2021Article
- A case of porokeratotic adnexal ostial nevus misdiagnosed as wart.Clinical case reports · 2021Article
- A six-attribute classification of genetic mosaicism.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Review
- Assessment of Gap Junction Protein Beta-2 rs3751385 Gene Polymorphism in Psoriasis Vulgaris.Journal of clinical medicine research · 2019Article
- Inner Ear Connexin Channels: Roles in Development and Maintenance of Cochlear Function.Cold Spring Harbor perspectives in medicine · 2019Review
- A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma.Human mutation · 2019Article
- Widespread presentation and spontaneous regression of porokeratotic eccrine ostial and dermal duct nevus.JAAD case reports · 2018Article
- Human diseases associated with connexin mutations.Biochimica et biophysica acta. Biomembranes · 2018Review
- Porokeratotic eccrine ostial and dermal duct nevus: a unique case treated with COClinical case reports · 2017Article
- Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature.Anais brasileiros de dermatologia · 2017Review
- Connexin channels in congenital skin disorders.Seminars in cell & developmental biology · 2016Review
- Porokeratotic eccrine ostial and dermal duct nevus.Case reports in dermatological medicine · 2013Article
- Linear Pitted Plaque Over the Foot.Indian dermatology online journalArticle
- Porokeratotic Eccrine Ostial and Dermal Duct Nevus and Porokeratotic Eccrine and Hair Follicle Nevus: Is Nomenclature "Porokeratotic Adnexal Ostial Nevus" More Appropriate?Indian dermatology online journalArticle
- Porokeratotic eccrine ostial and dermal duct nevus.Indian dermatology online journalArticle
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Porokeratotic eccrine ostial and dermal duct nevus, or porokeratotic eccrine nevus (PEN), is a hyperkeratotic epidermal nevus. Several cases of widespread involvement have been reported, including one in association with the keratitis-ichthyosis-deafness (KID) syndrome (OMIM #148210), a rare disorder caused by mutations in the GJB2 gene coding for the gap junction protein connexin26 (Cx26). The molecular cause is, as yet, unknown. We have noted that PEN histopathology is shared by KID. The clinical appearance of PEN can resemble that of KID syndrome. Furthermore, a recent report of cutaneous mosaicism for a GJB2 mutation associated with KID describes linear hyperkeratotic skin lesions that might be consistent with PEN. From this, we hypothesized that PEN might be caused by Cx26 mutations associated with KID or similar gap junction disorders. Thus, we analyzed the GJB2 gene in skin samples from two patients referred with generalized PEN. In both, we found GJB2 mutations in the PEN lesions but not in unaffected skin or peripheral blood. One mutation was already known to cause the KID syndrome, and the other had not been previously associated with skin symptoms. We provide extensive functional data to support its pathogenicity. We conclude that PEN may be caused by mosaic GJB2 mutations.
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