Long-Standing Filiform, Blaschkoid Papules

Koch, E.; Johnson, Luke R.; Gehris, Robin P.

doi:10.1001/jamadermatol.2013.87a

Cited by 4 publications

(2 citation statements)

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“…1 The lesions feature orthokeratotic or parakeratotic plugs called cornoid lamella that protrude from dilated eccrine ducts and follicular openings, below which there is dyskeratosis and the absence of a granular layer. 2 The genetic basis of PEODDN has recently been linked to somatic mutations in the gene responsible for gap junction protein connexin 26 (Cx26) (GJB2). [3][4][5] Germline GJB2 mutations have been implicated for keratitis-ichthyosis-deafness (KID) syndrome (OMIM #148210), which is a rare autosomal dominant disorder that manifests as keratitis, widespread keratoderma, and deafness.…”

Section: Introductionmentioning

confidence: 99%

“…It typically manifests as asymptomatic linear keratotic papules and plaques with a Blaschkoid distribution, and predominantly affects the extremities starting from birth or childhood 1 . The lesions feature orthokeratotic or parakeratotic plugs called cornoid lamella that protrude from dilated eccrine ducts and follicular openings, below which there is dyskeratosis and the absence of a granular layer 2 …”

Section: Introductionmentioning

confidence: 99%

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A possible role for second‐hit postzygotic GJB2 mutation in porokeratotic eccrine ostial and dermal duct nevus

Chang

Yang

Huang

et al. 2022

The Journal of Dermatology

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Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare type of epidermal nevus involving the eccrine acrosyringia. It typically presents as asymptomatic linear keratotic papules and plaques along the lines of Blaschko and predominantly affects the extremities. This disease has recently been linked to somatic mutations within the GJB2 locus. Only four GJB2 mutations have been previously documented for PEODDN, and the underlying genetic basis remains inconclusive. Herein, we report an 18‐year‐old female with a hyperkeratotic plaque on the dorsa of the proximal interphalangeal joint of her right ring finger, as well as multiple small hyperkeratotic papules linearly distributed on the lateral sides of her fingers occurring since birth. Histopathological results revealed prominent parakeratotic cornoid lamella‐like tiers at the opening of the eccrine secretory ducts. Whole‐exome sequencing of the affected skin tissue revealed a heterozygous germline mutation and a postzygotic somatic mutation in GJB2. In summary, this study presents a case of PEODDN with compound heterozygous mutations in GJB2, which broadens the genetic spectrum of this disease entity and implies a possible role for second‐hit mutations in the pathogenesis of PEODDN.

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