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PEODDN clinically presents as either multiple linear punctuate pits with comedo-like plugs on palms and soles or keratotic plaques and papules that resemble linear VEN on other areas.6,7 But it may consist of multiple verrucous, keratotic, brown to flesh-colored papules often coalescing into linear plaques.
The etiology of PEODDN is currently unknown, however, studies have alluded to a genetic contribution through genetic mosaicism and a possible eccrine or circumscribed epidermal keratinization abnormality.9,10 PEODDN is also associated with many conditions including scoliosis, anhidrosis, seizure disorder, sensory polyneuropathy, deafness, left hemiparesis, developmental delay, breast hypoplasia, alopecia, onychodysplasia, Bowen's disease, and squamous cell carcinoma.11,12 Our patient was clinically healthy, without any of the aforementioned associated disorders.
To date, 77 cases of PEODDN have been reported in the literature, with 53% having congenital onset.
A somatic mutation in the GJB2 gene, which encodes the gap junction protein connexin 26, has recently been implicated in the pathogenesis of PEODDN. Connexins act as hemichannels between adjacent cells and play a key role in intracellular signaling and extracellular calcium uptake within cells.
Common differential diagnoses for PEODDN include porokeratosis of Mibelli, linear psoriasis, and linear epidermal nevus.
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