Porokeratotic eccrine ostial and dermal duct nevus

Abstract

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare nevoid condition characterized by asymptomatic grouped keratotic papules and plaques with a linear pattern on the extremities, having distinct porokeratotic histopathological features. The lesions usually present at birth or in childhood. We present here a case of late-onset PEODDN in a 23-year-old man who had lesions on the palm, forearm, arm and the chest along the lines of Blaschko, strictly localized to the left side of the body.

Hyperkeratotic papules following Blaschko lines in a 4‐year‐old boy

“…Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare condition thought to be an eccrine hamartoma that usually presents at birth and persists into adulthood …”

“…They are asymptomatic or mildly pruritic, and are predominately located on the palms and soles . The differential diagnosis of PEODDN includes porokeratosis plantaris, inflammatory linear verrucous epidermal nevus, nevus comedonicus, linear epidermal nevus, linear psoriasis, linear porokeratosis, lichen planus linearis, linear Darier's disease, and forms of ichthyosis with a Blaschkoid distribution, such as Conradi syndrome and CHILD syndrome . Histopathology is diagnostic, showing cornoid lamellae with the involvement of acrosyringia, usually associated with the dilation of eccrine duct .…”

“…Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare condition thought to be an eccrine hamartoma that usually presents at birth and persists into adulthood. 1 The pathogenesis of PEODDN is unclear. The involvement of Blaschko's lines 2 implies mosaicism may play a role, and at least in some cases, PEODDN has been demonstrated to be a mosaic manifestation of the keratitis-ichthyosis-deafness (KID) syndrome, being caused by a somatic mutation in the gene GJB2.…”

A novel autosomal recessiveGJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma

“…It should be noted that the histopathologic findings were similar to that in PEODDN, a condition associated with GJB2 mutations. However, all the published mutations reported in PEODDN are somatic, and the corresponding germline mutations have been suggested to be lethal (Bandyopadhyay et al., ; Eskin‐Schwartz et al., ; Levinsohn et al., ; Marsden et al., ). Also, the clinical presentations of the patients with PEODDN, even in the localized areas as expected by somatic mosaicism, are quite different, and our cases may represent a new entity of ichthyosis follicularis with severe sensorineural deafness and PPK.…”

“…In addition to nonsyndromic hearing loss, there are forms of syndromic deafness associated with skin manifestations caused by mutations in GJB2 (Table ) (Lilly, Sellitto, Milstone, & White, ). In addition to these disorders caused by germline mutations in GJB2 , cases diagnosed as porokeratotic eccrine ostial and dermal duct nevus (PEODDN) have been described in association with somatic GJB2 mutations (Table ) (Bandyopadhyay, Saha, Das, & Das, ; Levinsohn, McNiff, Antaya, & Choate, ; Marsden, Fleming, & Dawber, ). These cutaneous lesions are considered to represent epidermal nevi that follow the Blaschko lines, found in most cases in limited distribution on the hands and feet, although more widespread distribution has been noted in some patients.…”