Cutis Tricolor

2018 ◽  
Vol 16 (05) ◽  
pp. 276-281
Author(s):  
Martino Ruggieri ◽  
Agata Polizzi ◽  
Selene Mantegna ◽  
Chiara Battaglini ◽  
Concetta Pirrone ◽  
...  
Keyword(s):  
Normal Skin ◽  
Distinct Type ◽  
Skin Lesions ◽  
Nasal Bridge ◽  
Phacomatosis Pigmentovascularis ◽  
Skeletal Defects ◽  
Skin Abnormalities ◽  
Vertebral Defects ◽  
Postzygotic Mutations ◽  
Over Time

AbstractCutis tricolor is a skin abnormality consisting in a combination of congenital hyper- and hypopigmented skin lesions (in the form of paired macules, patches, or streaks) in close proximity to each other in a background of normal skin. It is currently regarded as a twin-spotting (mosaic) phenomenon. This phenomenon has been reported so far as a purely cutaneous trait, as a part of a complex malformation phenotype (Ruggieri–Happle syndrome), which includes distinct facial features, cataract, skull and vertebral defects, long bones dysplasia, corpus callosum, cerebellar and white matter anomalies, cavum vergae and holoprosencephaly, and other systemic abnormalities. Cutis tricolor has been also reported as a distinct type with multiple, disseminated smaller skin macules (cutis tricolor parvimaculata) or in association with other skin disturbances (e.g., phacomatosis achromico-melano-marmorata) or in the context of other neurocutaneous phenotypes (e.g., ataxia-telangiectasia and phacomatosis pigmentovascularis) or as a sign of complex malformation phenotypes (e.g., microcephaly and dwarfism). More than 20 studies reporting 40 cases are present in the literature with pure cutaneous or syndromic cutis tricolor phenomena and are analyzed in the present study, confirming and expanding the overall phenotype of cutis tricolor. In particular, (1) the skin abnormalities of the cutis tricolor do not evolve over time; (2) there is a typical facial phenotype with long, elongated face, thick and brushy eyebrows, hypertelorism, deep nasal bridge with large bulbous nose, and anteverted nostrils; (3) the skeletal defects are mild-to-moderate and do not progress or cause relevant orthopedic complications; (4) the neurological/behavioral phenotype does not progress and the paroxysmal events (if present) tend to decrease over time; (5) only three patients developed early onset (treatable) cataracts. Different pathologic hypotheses have been postulated, including, early or late postzygotic mutations involving the same gene loci (in the context of the so-called dydymotic theory): such mechanisms can explain the overall skin, bone, lens, and nervous system phenomena of migration of different streaks of clones in the different tissues.

scholarly journals Inhibition of Hippo Signaling Improves Skin Lesions in a Rosacea-Like Mouse Model

2021 ◽  
Vol 22 (2) ◽  
pp. 931
Author(s):  
Jihyun Lee ◽  
Yujin Jung ◽  
Seo won Jeong ◽  
Ga Hee Jeong ◽  
Gue Tae Moon ◽  
...  
Keyword(s):  
Mouse Model ◽  
Signaling Pathway ◽  
Normal Skin ◽  
Skin Lesions ◽  
Hippo Signaling ◽  
Vascular Endothelial ◽  
Expression Levels ◽  
Hippo Signaling Pathway ◽  
Endothelial Growth Factor

The Hippo signaling pathway plays a key role in regulating organ size and tissue homeostasis. Hippo and two of its main effectors, yes-associated protein (YAP) and WWTR1 (WW domain-containing transcription regulator 1, commonly listed as TAZ), play critical roles in angiogenesis. This study investigated the role of the Hippo signaling pathway in the pathogenesis of rosacea. We performed immunohistochemical analyses to compare the expression levels of YAP and TAZ between rosacea skin and normal skin in humans. Furthermore, we used a rosacea-like BALB/c mouse model induced by LL-37 injections to determine the roles of YAP and TAZ in rosacea in vivo. We found that the expression levels of YAP and TAZ were upregulated in patients with rosacea. In the rosacea-like mouse model, we observed that the clinical features of rosacea, including telangiectasia and erythema, improved after the injection of a YAP/TAZ inhibitor. Additionally, treatment with a YAP/TAZ inhibitor reduced the expression levels of YAP and TAZ and diminished vascular endothelial growth factor (VEGF) immunoreactivity in the rosacea-like mouse model. Our findings suggest that YAP/TAZ inhibitors can attenuate angiogenesis associated with the pathogenesis of rosacea and that both YAP and TAZ are potential therapeutic targets for patients with rosacea.

scholarly journals Atomic Force Microscopy Applied to Atopic Dermatitis Study

2021 ◽  
Vol 18 (4) ◽  
pp. 21-28
Author(s):  
Simona Maria Ţîrcă ◽  
Ion Ţîrcă ◽  
Marius Sorin Ciontea ◽  
Florin Dumitru Mihălţan
Keyword(s):  
Atomic Force Microscopy ◽  
Atopic Dermatitis ◽  
Structural Integrity ◽  
Clinical Investigation ◽  
Normal Skin ◽  
Skin Lesions ◽  
Force Microscopy ◽  
Atomic Force ◽  
Child Patient ◽  
Surface Morphologies

Abstract Atopic dermatitis (AD)-the commonest inflammatory skin disease affects up to 25% of children and 2% to 5% of adults. Methods of the diagnostic provide expanded recommendations founded on available evidence. Morphological evaluation remains a principal feature of clinical investigation and the main criteria of diagnosis. Methods. We collected normal and affected skin from a 6-month child patient who was diagnosed through dermatologic examination. Clinical characteristics and the diagnosis of atopic dermatitis were in accordance with Hanifin and Rajka criteria. Morphology and structural integrity were investigated by Atomic Force Microscopy. Results. Optical and topography images indicate that in the case of AD skin lesions the cuticle structure was severely damaged and distorted with the flattening and grading of the plates, which have an irregular appearance. From the surface morphologies of the samples, we demonstrate that the shape of the corneocytes, with granular and elongated appearance, specific to normal skin is transformed by AD into broken and collapsed plates with discontinuous appearance. Conclusions. In the initial diagnosis of AD changes of the skin properties can be an indicator. Hanifin and Rajka criteria together with Atomic Force Microscopy can be a useful and necessary technique diagnosing cases of atopic dermatitis.

scholarly journals Usage of the Term Big Data in Biomedical Publications: A Text Mining Approach

2019 ◽  
Vol 3 (1) ◽  
pp. 13
Author(s):  
Allard van Altena ◽  
Perry Moerland ◽  
Aeilko Zwinderman ◽  
Sílvia Olabarriaga
Keyword(s):  
Big Data ◽  
Operating Characteristic ◽  
Roc Curves ◽  
Distinct Type ◽  
Research Field ◽  
Time Intervals ◽  
Learning Classifier ◽  
Biomedical Field ◽  
Biomedical Publications ◽  
Over Time

In this study, we attempt to assess the value of the term Big Data when used by researchers in their publications. For this purpose, we systematically collected a corpus of biomedical publications that use and do not use the term Big Data. These documents were used as input to a machine learning classifier to determine how well they can be separated into two groups and to determine the most distinguishing classification features. We generated 100 classifiers that could correctly distinguish between Big Data and non-Big Data documents with an area under the Receiver Operating Characteristic (ROC) curve of 0.96. The differences between the two groups were characterized by terms specific to Big Data themes—such as `computational’, `mining’, and `challenges’—and also by terms that indicate the research field, such as `genomics’. The ROC curves when plotted for various time intervals showed no difference over time. We conclude that there is a detectable and stable difference between publications that use the term Big Data and those that do not. Furthermore, the use of the term Big Data within a publication seems to indicate a distinct type of research in the biomedical field. Therefore, we conclude that value can be attributed to the term Big Data when used in a publication and this value has not changed over time.

scholarly journals Basophil Recruitment to Skin Lesions of Patients with Systemic Lupus Erythematosus Mediated by CCR1 and CCR2

2017 ◽  
Vol 43 (2) ◽  
pp. 832-839 ◽  
Author(s):  
Qingjun Pan ◽  
Yongmin Feng ◽  
Yanxia Peng ◽  
Hongjiu Zhou ◽  
Zhenzhen Deng ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Migration Rate ◽  
Skin Diseases ◽  
Normal Skin ◽  
Flow Cytometric Analysis ◽  
Skin Lesions ◽  
Skin Tissue ◽  
Systemic Lupus

Background/Aims: Basophils have been reported to infiltrate skin lesions in various skin diseases, but not in systemic lupus erythematosus (SLE). This study investigated basophil infiltration in SLE and its mechanism. Methods: Twenty newly diagnosed SLE patients and twenty healthy controls were enrolled. Nine SLE patients underwent skin biopsies. Flow cytometric analysis the phenotype of peripheral basophils and their migration rate toward RANTES and MCP-1 were analyzed with the transwell culture system, also the expression of these two chemokines in skin tissue were analyzed with immunohistochemistry. Results: Increased activation and decreased numbers of peripheral basophils were observed in SLE patients compared with controls. Basophil migration into skin lesions of SLE patients were observed, but not in normal skin tissue. This migration was related to the upregulation of chemokine receptors CCR1 and CCR2 on basophils. In vitro studies showed that migration rate toward RANTES and MCP-1 increased significantly in basophils from SLE patients compared with those from controls. Consistently, high levels of RANTES and MCP-1 expression were observed in skin lesions from SLE patients but not in normal skin tissue. Conclusion: Basophil recruitment to skin lesions of SLE patients mediated by CCR1 and CCR2, which may contribute to tissue damage in SLE.

scholarly journals The occurrence of dermatosparaxis in a commercial Drakensberger cattle herd in South Africa : article

2008 ◽  
Vol 79 (1) ◽  
Author(s):  
D.E. Holm ◽  
E. Van Wilpe ◽  
C.K. Harper ◽  
N.M. Duncan
Keyword(s):  
South Africa ◽  
Clinical Signs ◽  
Size Variation ◽  
Electron Microscopic Examination ◽  
Skin Lesions ◽  
Detailed Examination ◽  
Electron Microscopic ◽  
Loose Packing ◽  
Dermal Collagen ◽  
Skin Abnormalities

Dermatosparaxis is a heritable collagen dysplasia causing skin extensibility and fragility. In Belgian Blue cattle this mutation has been described as a 3 base pair (bp) change followed by a 17 bp deletion in the gene coding for procollagen 1 N-Proteinase (pNPI). An outbreak in a commercial Drakensberger herd in South Africa followed the introduction in late 2000 of a 3-year-old bull that developed skin lesions in 2001 and was culled in 2002. Some of his offspring were similarly affected, 1 of which was kept as a breeding bull after his sire's death. Two affected calves were referred to the Onderstepoort Veterinary Academic Hospital in October 2005. Detailed examination revealed only skin abnormalities limited to the lateral extremities of the thorax, abdomen and pelvis, viz. either acute lacerations of varying sizes, slow healing defects or thin scars in chronic cases. During a subsequent farm visit, 13 animals with similar wounds were seen in the herd of 146 animals. Electron microscopic examination of skin biopsies revealed haphazard arrangement and loose packing of dermal collagen fibrils within collagen fibres. The fibrils showed size variation and slightly irregular outlines on cross-section, consistent with mild dermatosparaxis. DNA samples of affected calves were analysed using primers designed to amplify the region of the pNPI gene that contained the mutation described in Belgian Blue cattle, but this mutation could not be demonstrated in any of the animals tested. It is concluded that a form of dermatosparaxis with a different gene mutation from that described in Belgian Blue cattle exists in Drakensberger cattle in South Africa. This possibly also explains the milder and more delayed clinical signs and the milder dermal collagen ultrastructural abnormalities.

scholarly journals Nigerian Female with Skin Lesions in the Leg and Face: Herpetic Sycosis Folliculitis

2016 ◽  
Vol 2016 ◽  
pp. 1-4
Author(s):  
Dominique Dilorenzo ◽  
Naganna Channaveeraiah ◽  
Patricia Gilford ◽  
Bruce Deschere
Keyword(s):  
Normal Skin ◽  
The United States ◽  
Skin Lesions ◽  
Unusual Presentation ◽  
Diagnostic Dilemma ◽  
Lower Lip ◽  
Hiv Test ◽  
Mucus Membrane ◽  
The Face ◽  
The Right

Nongenital HSV 1 presents outside the mucus membrane. Our patient had unusual presentation that caused diagnostic dilemma. 30-year-old native Nigerian female coming with fiancée to the United States presented to our service one day after arrival through ER with a lesion on her right ankle. She was diagnosed with cellulitis, started on antibiotics, and admitted to hospital. She had fever of 39.1°C. Head and neck exam showed multiple sized lesions over tongue and palate and inner aspect of lower lip. Abdomen and genital exam was normal. Skin exam showed lesions over the face and lesions over the lateral aspect of the right leg. There was ulcerated lesion over the right lateral malleolus with surrounding erythema and edema. Her tests showed elevated ESR of 98; HIV test was negative; CT scan of the ankle showed no abscess or osteomyelitis. TB quantiferon was indeterminate; AFB stain and culture were negative; HSV IgM was elevated at 1 : 16; RPR was negative; ANA was negative; malaria screen was negative, and blood cultures were negative for bacteria, fungus, and virus. Debrided wound had no growth of bacteria or fungus or virus. This case illustrates the unusual presentation of the HSV1 outside the mucus membrane and how it can be confused with other conditions that required extensive tests. Therapeutic trail with antiviral medications resolved lesions over the leg and face.

HPV Typing in Brazilian Patients witn Epidermodysplasia Verruciformis: High Prevalence of EV-HPV 25

2004 ◽  
Vol 8 (2) ◽  
pp. 110-115 ◽  
Author(s):  
Walmar Roncalli P. de Oliveira ◽  
Qin He ◽  
Peter L. Rady ◽  
Thomas K. Hughes ◽  
Cyro Festa Neto ◽  
...  
Keyword(s):  
Malignant Transformation ◽  
Genetic Disorder ◽  
Normal Skin ◽  
Skin Lesions ◽  
Epidermodysplasia Verruciformis ◽  
Hpv Dna ◽  
Clinically Normal ◽  
Hpv Typing ◽  
Skin Cancers ◽  
High Prevalence

Background: Epidermodysplasia verruciformis is a rare genetic disorder characterized by development of lesions associated with HPV#5 or HPV#8 in early childhood; malignant transformation occurs in approximately half of individuals during adulthood. Objective: Our goal was to study the presence and spectrum of EV-HPV types in Brazilian EV patients, a population that had never been studied in this regard. Patients and MethodsForty-one biopsies from different lesions (benign and skin tumors) and one biopsy from clinically normal skin from each of 20 Brazilian patients with EV were studied for HPV typing using nested PCR. Results: EV-HPV DNA was detected in all 41 skin lesions of the patients and was also identified in specimens considered as normal skin from 8 patients (40%). In this study HPV-EV 25 was the most prevalent (70%), and HPV 14d (67%) was highly associated with malignant lesions. Conclusion: EV-HPV 25 was the most prevalent in our study. The noteworthy association of EV-HPV type 14d with skin cancers suggests its possible oncogenic role in malignant transformation in this population.

Sign in / Sign up

Export Citation Format

Share Document