Search results for "keratosis"

A pigmented and eroded lesion on the buttock.

2019

Overexpression of bone morphogenetic protein-6 (BMP-6) in the epidermis of transgenic mice: inhibition or stimulation of proliferation depending on t…

1996

Bone morphogenetic protein-6 (BMP-6) belongs to the family of TGF-beta-related growth factors. In the developing epidermis, expression of BMP-6 coincides with the onset of stratification. Expression persists perinatally but declines after day 6 postpartum, although it can still be detected in adult skin by reverse transcriptase-polymerase chain reaction (RT-PCR) analysis. We constitutively overexpressed BMP-6 in suprabasal layers of interfollicular epidermis in transgenic mice using a keratin 10 promoter. All mice expressing the transgene developed abnormalities in the skin, indicating an active transgene-derived factor. Depending on the pattern of transgene expression, the effects on proli…

Multispectral and autofluorescence RGB imaging for skin cancer diagnostics

2019

This paper presents the results of statistical clinical data, combining two diagnostic methods. A combination of two skin imaging methods – diffuse reflectance and autofluorescence – has been applied for skin cancer diagnostics. Autofluorescence (AF) and multispectral diffuse reflectance images were acquired by custom made prototype with 405 nm, 526 nm, 663 nm and 964 nm LEDs and RGB CMOS camera. Parameter p’ was calculated from diffuse reflectance images under green, red and infrared illumination, AF intensity (I’) was calculated from AF images exited at 405nm wavelength. Obtained results show that criterion p` > 1 gives possibility to discriminate melanomas and different kind of keratosis…

Assembling a consensus on actinic cheilitis: A Delphi study.

2021

Aims: To discuss the terminology to define and classify actinic cheilitis (AC) and to build a consensus on the diagnostic and therapeutic approaches to AC. Methods: Two-round Delphi study using a questionnaire including 34 closed sentences (9 on terminology and taxonomy, 5 on potential for malignant transformation, 12 on diagnostic aspects, 8 on treatment) and 8 open questions. Experts’ agreement was rated using a Likert scale (1–7). Results: A consensus was reached on 24 out 34 statements (73.5%) and on 5 out of 8 (62.5%) close-ended questions. The response rate was identical in both rounds (attrition of 0%). AC is the term with the highest agreement (median of 7 (strongly agree; IQR: 6–7)…

Prevalence and risk factors of actinic keratosis in patients attending Italian dermatology clinics

2017

Background: Actinic keratosis (AK) is a common keratinocyte intraepidermal neoplasia. Objective: To assess AK prevalence and potential risk factors in patients attending Italian general dermatology clinics. Materials & methods: This retrospective study was conducted on clinical data from consecutive white outpatients aged ≥30 years, attending 24 general dermatology clinics between December 2014 and February 2015. AK prevalence (entire population) and multivariate risk factor analysis (patients with current/previous AK and complete data) are presented. Results: AK prevalence in 7,284 patients was 27.4% (95% CI: 26.4-28.4%); 34.3% in men and 20.0% in women (p<0.001). Independent AK ris…

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

2012

Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous γ 3H2AX-positive cells in cell lines derived from two affected individual…

Hypohidrotic Ectodermal Dysplasia with total anodontia: A case report

2011

Ectodermal dysplasia is a hereditary disorder that occurs as a consequence of disturbances in the ectoderm of the developing embryo. The triad of nail dystrophy, alopecia or hypotrichosis and palmoplantar hyperkeratosis is usually accompanied by a lack of sweat glands and a partial or complete absence of primary and/ or permanent dentition. A case report illustrating the prosthetic rehabilitation of a seven year old boy with hypohidrotic ectodermal dysplasia associated with total anodontia is presented.

Search forReCQL4mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

2014

Three overlapping conditions, namely Rothmund-Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low, leading to the widespread prescription of RECQL4 sequencing. The aim of our study was therefore to determine the best clinical indicators for the presence of RECQL4 mutations in a series of 39 patients referred for RECQL4 molecular analysis and belonging to the RTS (27 cases) and BGS (12 cases) spectrum. One or two deleterious RECQL4 mutations were found in 10/27 patients referred for RTS diagnosis. Clinical and molecular reevaluation led to a…

Oral leukoplakia; a proposal for simplification and consistency of the clinical classification and terminology

2019

There is a distinct lack of uniformity in the definitions and clinical terminologies related to oral leukoplakia and leukoplakialike lesions and disorders. Proposals have been put forward to subclassify leukoplakia into a homogeneous and a non-homogeneous type based on color only, being either predominantly white or mixed white-and-red, respectively, irrespective of the texture of the lesion. In this proposal there is no need anymore to regard the poorly defined proliferative verrucous leukoplakia as a separate entity. Since keratosis is primarily a histopathological term, its clinical use is discouraged. Alternative terminology for these so-called keratotic lesions and disorders has been p…

Progressive symmetric erythro-keratosis associated with oligodontia, severe caries, disturbed hair growth and ectopic nail: a new syndrome?

2008

A 7-year-old girl had well-demarcated erythematous plaques covered with white pityriasiform scales which were symmetrically distributed and involved the extensor surfaces of the extremities as well as the abdomen, buttocks and face. Histological examination showed marked hyperkeratosis with parakeratosis, and a thickened granular cell layer, mild acanthosis and slight lymphocytic infiltration surrounding the papillary blood vessels, compatible with a diagnosis of progressive symmetrical erythrokeratodermia. Remarkably, a keratotic excrescence similar to a normal nail plate involved the tip of the nose since the age of 6 months. Moreover, occipital hairlessness, oligodontia and severe caries…