Porokeratotic Eccrine Duct and Hair Follicle Nevus (PEHFN) Associated with Keratitis-Ichthyosis-Deafness (KID) Syndrome

Criscione, A B Vincent; Lachiewicz, Mark; Robinson‐Bostom, Leslie; Grenier, Nicole; Dill, Sara W

doi:10.1111/j.1525-1470.2010.01272.x

Cited by 18 publications

(20 citation statements)

References 20 publications

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“…PAON responded to treatment with tazarotene gel, dithranol short‐contact treatment and topical photodynamic therapy, but laser treatments such as carbon dioxide laser as in our patient and with erbium/carbon dioxide laser appear to be more efficient in most but not all patients . Topical steroids and topical tretinoin seem to be mostly ineffective.…”

Section: Discussionmentioning

confidence: 57%

“…Some patients have coexisting problems such seizures, left hemiparesis Porokeratotic adnexal ostial naevus and scoliosis, 15 deafness and developmental delay, 16 palmoplantar keratoderma, 13 psoriasis, 17,18 hyperthyroidism and polyneuropathy, 11 breast hypoplasia 1 and KID syndrome. 19,20 Recently, PAON is considered as a mosaic form of KID as it may present mutations in a gap junction protein, connexin 26 (Cx26), encoded by the gene GJB2. 21 Cx 26 is in ectodermal tissues as cochlea, cornea and skin.…”

Section: Discussionmentioning

confidence: 99%

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Porokeratotic adnexal ostial naevus: review on the entity and therapeutic approach

Llamas‐Velasco

Hilty²,

Kempf³

2014

Acad Dermatol Venereol

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Section: Discussionmentioning

confidence: 57%

Section: Discussionmentioning

confidence: 99%

Porokeratotic adnexal ostial naevus: review on the entity and therapeutic approach

Llamas‐Velasco

Hilty²,

Kempf³

2014

Acad Dermatol Venereol

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“…A functional role for Cx30 is highly likely, as several case studies of Clouston syndrome, associated with mutations in Cx30 have reported the development of eccrine syringofibroadenoma, a rare benign neoplasia associated with the eccrine sweat glands [56]. It is also noteworthy that many patients with dominant mutations in Cx26 develop hyperproliferation in palmoplantar regions, where these glands are highly prevalent [24,57,58].…”

Section: Eccrine Sweat Glandsmentioning

confidence: 99%

Connexins and pannexins in the integumentary system: the skin and appendages

Faniku

Wright

Martin

2015

Cell. Mol. Life Sci.

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The integumentary system comprises the skin and its appendages, which includes hair, nails, feathers, sebaceous and eccrine glands. In this review, we focus on the expression profile of connexins and pannexins throughout the integumentary system in mammals, birds and fish. We provide a picture of the complexity of the connexin/pannexin network illustrating functional importance of these proteins in maintaining the integrity of the epidermal barrier. The differential regulation and expression of connexins and pannexins during skin renewal, together with a number of epidermal, hair and nail abnormalities associated with mutations in connexins, emphasize that the correct balance of connexin and pannexin expression is critical for maintenance of the skin and its appendages with both channel and non-channel functions playing profound roles. Changes in connexin expression during both hair and feather regeneration provide suggestions of specialized communication compartments. Finally, we discuss the potential use of zebrafish as a model for connexin skin biology, where evidence mounts that differential connexin expression is involved in skin patterning and pigmentation.

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“…Unfortunately, the photographs provided in that report were of insufficient quality to confidently make a diagnosis, but the abnormalities might be consistent with PEN. Finally, cases of nonsegmental KID syndrome were recently reported to be “associated with PEN”, on the grounds of purely histopathological findings (Criscione et al , 2010; Lazic et al , 2011). Considering the above, we hypothesized that PEN might be caused by Cx26 mutations associated with KID syndrome or similar hyperkeratotic gap junction disorders (de Zwart-Storm et al , 2009).…”

Section: Introductionmentioning

confidence: 99%

Porokeratotic Eccrine Nevus May Be Caused by Somatic Connexin26 Mutations

Easton

Donnelly

Kamps

et al. 2012

Journal of Investigative Dermatology

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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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Porokeratotic Eccrine Duct and Hair Follicle Nevus (PEHFN) Associated with Keratitis-Ichthyosis-Deafness (KID) Syndrome

Cited by 18 publications

References 20 publications

Porokeratotic adnexal ostial naevus: review on the entity and therapeutic approach

Porokeratotic adnexal ostial naevus: review on the entity and therapeutic approach

Connexins and pannexins in the integumentary system: the skin and appendages

Porokeratotic Eccrine Nevus May Be Caused by Somatic Connexin26 Mutations

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