Porokeratoses: Immunohistochemical, light and electron microscopic evaluation

Jurecka, Wolfgang; Neumann, R.; Knobler, Robert

doi:10.1016/0190-9622(91)70019-x

Cited by 33 publications

(21 citation statements)

References 18 publications

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“…In fact, following the detection of helper T cells and Langerhans cells in PM, an involvement of immunological mechanisms has been suggested [22]. Local or systemic changes in immune function could induce decreased immune surveillance, which in turn would prevent pathologic keratinocyte clones from being recognized and immunologically rejected [23].However, it could directly trigger the development and proliferation of a mutant clone of keratinocytes.…”

Section: Discussionmentioning

confidence: 99%

Identification of an Interstitial 18p11.32-p11.31 Duplication Including the EMILIN2 Gene in a Family with Porokeratosis of Mibelli

et al. 2013

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Porokeratosis is a rare disease of epidermal keratinization characterized by the histopathological feature of the cornoid lamella, a column of tightly fitted parakeratocytic cells, whose etiology is still unclear. Porokeratosis of Mibelli is a subtype of porokeratosis presenting a single plaque or a small number of plaques of variable size located unilaterally on limbs. It frequently appears in childhood and occurs with a higher incidence in males. Cytogenetic analyses were performed in all members of the family on lesioned and uninvolved skin. An array-CGH analysis was also performed utilizing the Human Genome CGH Microarray Kit G3 400 with 5.3 KB overall median probe spacing. Gene expression was performed on skin fibroblasts. In this study, we describe a Caucasian healthy 4-year-old child and his father showing features of porokeratosis of Mibelli. Array-CGH analysis revealed an interstitial 429.5 Kb duplication of chromosome 18p11.32-p11.3 containing four genes, namely: SMCHD1, EMILIN2, LPIN2, and MYOM1 both in patient and his father. EMILIN2 resulted overexpressed on skin fibroblasts. Also other members of this family, without evident signs of porokeratosis, carried the same duplication. Among these genes, we focused our attention on elastin microfibril interfacer 2 (EMILIN2) gene. Apoptosis plays a fundamental role in maintaining epidermal homeostasis, balancing keratinocytes proliferation, and forming the stratum corneum. EMILIN2 is known to trigger the apoptosis of different cell lines negatively affecting cell survival. It is expressed in the skin. We could speculate that the duplication and overexpression of EMILIN2 cause an abnormal apoptosis of epidermal keratinocytes and alter the process of keratinization, even if other epigenetic and genetic factors could also be involved. Our results could contribute to a better understanding of the pathogenesis of porokeratosis of Mibelli.

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Section: Discussionmentioning

confidence: 99%

Identification of an Interstitial 18p11.32-p11.31 Duplication Including the EMILIN2 Gene in a Family with Porokeratosis of Mibelli

et al. 2013

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“…In our case, Plummer–Vinson syndrome may be one of the trigger factors. The aetiology is still unknown but it has been suggested that the presence of helper T cells and some Langerhans cells in Mibelli's porokeratosis is evidence for immunological mechanisms induced by antigen presentation 4 …”

mentioning

confidence: 99%

A case of facial porokeratosis

Ferahbaş¹,

Utaş²,

Koç³

et al. 2006

Acad Dermatol Venereol

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“…Dermal infiltrates in porokeratosis were CD4 + T cells intermingled with CD1a + Langerhans cells 11 . Tanaka et al.…”

Section: Discussionmentioning

confidence: 99%

Eruptive pruritic papular porokeratosis: A pruritic variant of porokeratosis

Kanekura

Yoshii

2006

The Journal of Dermatology

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Porokeratosis is a chronic skin disorder characterized clinically by the presence of crater-like patches with an elevated thick keratotic border and central atrophy. Histology reveals cornoid lamellae. While porokeratosis is practically asymptomatic, a pruritic variant has been reported. We recently encountered an 82-year-old man with pruritic porokeratosis. He presented with erythematous papules and intensively itchy patches on his lower limbs that had been present for 6 months. Histopathological examination revealed the characteristic cornoid lamellae. We describe this case in detail and provide a review of the published work.

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Porokeratoses: Immunohistochemical, light and electron microscopic evaluation

Cited by 33 publications

References 18 publications

Identification of an Interstitial 18p11.32-p11.31 Duplication Including the EMILIN2 Gene in a Family with Porokeratosis of Mibelli

Identification of an Interstitial 18p11.32-p11.31 Duplication Including the EMILIN2 Gene in a Family with Porokeratosis of Mibelli

A case of facial porokeratosis

Eruptive pruritic papular porokeratosis: A pruritic variant of porokeratosis

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