Altered keratin expression in ichthyosis hystrix Curth-Macklin

Niemi, Kirsti‐Maria; Virtanen, Ismo; Kanerva, Lasse; Muttilainen, M.

doi:10.1007/bf00371641

Cited by 29 publications

(30 citation statements)

References 13 publications

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“…5,6,17 In Ichthyosis Hystrix of Curth-Macklin, the mutations affect the composition of the V 2 domain of KRT1. 18,19 Ultrastructurally, tonofilament aggregates form dark peripheral shells often with perinuclear vacuolization and formation of binucleated cells. 2,7,19 This disease has been shown to result from abnormal loricrin translocation to the desmosomal plaque, illustrating the association between abnormal cornified envelope formation and aberrant keratin filament organization.…”

Section: Discussionmentioning

confidence: 99%

“…18,19 Ultrastructurally, tonofilament aggregates form dark peripheral shells often with perinuclear vacuolization and formation of binucleated cells. 2,7,19 This disease has been shown to result from abnormal loricrin translocation to the desmosomal plaque, illustrating the association between abnormal cornified envelope formation and aberrant keratin filament organization. 20 The formation of intracellular eosinophilic homogenizations and inclusions is manifested as dyskeratosis histologically and reflects the intracellular aggregates of tonofilaments.…”

Section: Discussionmentioning

confidence: 99%

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A Unique Pattern of Dyskeratosis Characterizes Epidermolytic Hyperkeratosis and Epidermolytic Palmoplantar Keratoderma

Bergman

Khamaysi

Sprecher

2008

The American Journal of Dermatopathology

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Hereditary skin diseases that are characterized ultrastructurally by intracellular clumpings of keratin tonofilaments, such as Darier disease and Ichthyosis Hystrix of Curth-Macklin, display epidermal dyskeratosis also histologically. Epidermolytic hyperkeratosis (EHK) and epidermolytic palmoplantar keratoderma (Voerner type) (EPPK) are 2 types of autosomal dominant keratodermas, which are also characterized ultrastructurally by intracellular clumpings of tonofilaments but usually without a clear description of histological dyskeratosis. The main aim of the present study was to characterize the histologic signs of keratin aggregation and clumping in the involved epidermis of EHK and EPPK. Two cases of EHK caused by KRT1 mutations and 4 cases of EPPK caused by KRT9 mutations were studied. The biopsies were obtained mostly from the involved skin of the palm. All 6 biopsies were studied histologically, and 4 biopsies (2 EHKs and 2 EPPKs) were also studied ultrastructurally. All 6 cases displayed the characteristic histological epidermolytic changes. In addition, intracytoplasmic and perinuclear eosinophilic homogenizations and round to oval eosinophilic inclusions were identified with varying frequencies in the involved epidermis of all 6 cases. These findings, which were more prominent in the EHK cases, corresponded most likely to the intracytoplasmic aggregates of tonofilaments and to the large round to oval dense clumps of tonofilaments, which were observed ultrastructurally. In conclusion, varying degrees of dyskeratosis are frequently present in EHK and EPPK and should be considered to be a histological characteristic of these disorders.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

A Unique Pattern of Dyskeratosis Characterizes Epidermolytic Hyperkeratosis and Epidermolytic Palmoplantar Keratoderma

Bergman

Khamaysi

Sprecher

2008

The American Journal of Dermatopathology

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“…Two large families and several sporadic cases have been described to date. ICHM is clinical heterogeneous since palmoplantar keratoderma can be present (Sprecher et al 2001) or absent (Bonifas et al 1993;Niemi et al 1990). The ultrastructural picture consists of bi-nucleated cells and tonoWlament shells surrounding the nucleus in upper keratinocytes without signs of epidermolysis or keratin clumping.…”

Section: Ichthyosis Hystrix Of Curth-macklinmentioning

confidence: 98%

The molecular basis of human keratin disorders

Arin

2009

Hum Genet

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Keratins are cytoskeletal proteins that provide structural support to epithelial cells and tissues. Perturbation causes cell and tissue fragility and accounts for a large number of genetic disorders in humans. In humans, 54 functional keratin genes exist and 21 different keratin genes including hair keratins and hair follicle-specific epithelial keratins have been associated with hereditary disorders. Moreover, keratins have been implicated in more complex traits such as liver disease and inflammatory bowel disease. Understanding the molecular basis of keratin disorders has been the basis for improved diagnosis with prognostic implications, genetic counseling and prenatal testing for severe disorders. Besides their mechanical role, keratins have newly identified functions in apoptosis, cell growth, tissue polarity, wound healing and tissue remodeling. Improved understanding of the regulatory functions of keratins may offer novel approaches to overcome current treatment limitations.

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“…Histopathology shows granular cells with perinuclear oedema and shell formation, and binuclear cells, and the most prominent feature ultrastructurally are segregation of cytoplasmic components, perinuclear tonofilament shells and binuclear keratinocytes [3][4][5].…”

Section: Discussionmentioning

confidence: 99%

A Unique Case? Darier’s Disease Presented as Porcupine-Like Appearance and the Observation on Acitretin Treatment

Zhang¹,

Li²,

Li³

et al. 2012

JCDSA

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Dyskeratosis follicularis (Darier's disease, DD) is rare autosomal dominant disease characterized by hyperkeratotic papules that coalesce into plaques and occur primarily in seborrheic or intertriginous areas. Associated findings include nail abnormalities. A 3-year-old boy presented with porcupine-like appearance for 2 years. The lesion from the back was taken for light microscopy and electron microscopy. He was treated with acitretin (0.31 mg/d to 0.66 mg/d) for 8 years. Light microscopy and electron microscopy showed that the typical features of DD. The patient show good respond to the treatment. During 8 years treatment, the patient had dry mouth and pruritus. The skeletal abnormalities didn't happen in the patient. Evaluation of the serum lipid profile, liver function and renal function were within normal lever after treatment. Our findings showed that porcupine-like appearance is a unique pattern of DD. Acitretin may be a useful therapeutic agent in children with DD and less likely to cause skeletal problems.

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Altered keratin expression in ichthyosis hystrix Curth-Macklin

Cited by 29 publications

References 13 publications

A Unique Pattern of Dyskeratosis Characterizes Epidermolytic Hyperkeratosis and Epidermolytic Palmoplantar Keratoderma

A Unique Pattern of Dyskeratosis Characterizes Epidermolytic Hyperkeratosis and Epidermolytic Palmoplantar Keratoderma

The molecular basis of human keratin disorders

A Unique Case? Darier’s Disease Presented as Porcupine-Like Appearance and the Observation on Acitretin Treatment

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