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Zhongguo Dang Dai Er Ke Za Zhi =...A girl, aged 11 years, was admitted due to recurrent rash on the whole body and mucosa for 10 years, and typical rash was erythema at the perioral region, hand-foot...
A girl, aged 11 years, was admitted due to recurrent rash on the whole body and mucosa for 10 years, and typical rash was erythema at the perioral region, hand-foot joints, vulva, and perianal region, with blisters, erosions, and ulcers on the erythema. The girl was improved after zinc supplementation. Her younger brother had similar rash and medical history. The histopathological examination showed epidermal parakeratosis with mild hyperkeratosis, severe spongiform edema of the stratum corneum, significant proliferation of acanthocytes, and vacuolation of keratinocytes. The genetic testing revealed that both the girl and her younger brother had a homozygous mutation of c.1456(exon9)delG in the gene, and thus the girl was diagnosed with acrodermatitis enteropathica. It is concluded that for children with recurrent rash on the limbs and at the perioral region, genetic testing should be performed as early as possible to make a confirmed diagnosis, and a sufficient dose of zinc supplementation should be given, while the levels of trace elements such as blood zinc should be regularly monitored.
Topics: Acrodermatitis; Cation Transport Proteins; Child; Exanthema; Female; Homozygote; Humans; Male; Recurrence; Trace Elements; Zinc
PubMed: 36111725
DOI: 10.7499/j.issn.1008-8830.2204123 -
Veterinary Sciences Aug 2022The plasticity of the genome is an evolutionary factor in all animal species, including canines, but it can also be the origin of diseases caused by hereditary genetic... (Review)
Review
The plasticity of the genome is an evolutionary factor in all animal species, including canines, but it can also be the origin of diseases caused by hereditary genetic mutation. Genetic changes, or mutations, that give rise to a pathology in most cases result from recessive alleles that are normally found with minority allelic frequency. The use of genetic improvement increases the consanguinity within canine breeds and, on many occasions, also increases the frequency of these recessive alleles, increasing the prevalence of these pathologies. This prevalence has been known for a long time, but mutations differ according to the canine breed. These genetic diseases, including skin diseases, or genodermatosis, which is narrowly defined as monogenic hereditary dermatosis. In this review, we focus on genodermatosis , i.e., monogenic, and hereditary dermatosis, in addition to the clinical features, diagnosis, pathogeny, and treatment. Specifically, this review analyzes epidermolytic and non-epidermolytic ichthyosis, junctional epidermolysis bullosa, nasal parakeratosis, mucinosis, dermoid sinus, among others, in canine breeds, such as Golden Retriever, German Pointer, Australian Shepherd, American Bulldog, Great Dane, Jack Russell Terrier, Labrador Retriever, Shar-Pei, and Rhodesian Ridgeback.
PubMed: 36006348
DOI: 10.3390/vetsci9080433 -
PeerJ 2022Reflectance confocal microscopy (RCM), VISIA, and dermoscopy have emerged as promising tools for objective diagnosis and assessment of rosacea. However, little is known...
BACKGROUND
Reflectance confocal microscopy (RCM), VISIA, and dermoscopy have emerged as promising tools for objective diagnosis and assessment of rosacea. However, little is known about the diagnostic value of these imaging systems for rosacea.
OBJECTIVES
To assess the diagnostic value of RCM, VISIA, and dermoscopy for rosacea by establishing a novel multilayer perceptron (MLP) model.
METHODS
A total of 520 patients with rosacea and other facial diseases were included in this study. A total of 474 samples of dermoscopy data, 374 samples of RCM data, 434 samples of VISIA data, and 291 samples containing three data sources were collected. An MLP model was built with the total data to explore the association between the imageological features of each instrument and the probability of rosacea.
RESULTS
Our MLP model revealed that the area under the receiver operating characteristic curve (AUROC) values of RCM, VISIA and dermoscopy for diagnosing rosacea were 0.5233, 0.5646 and 0.7971, respectively. The integration of these three tools with clinical data could further improve the accuracy of the predictive diagnosis to 0.8385. For the imageological features of each tool, abnormalities (hyperkeratosis or parakeratosis) in the stratum corneum were effective variables for excluding rosacea (odds ratio [OR], 0.4333) under RCM. The indicators of rosacea under VISIA included overall severity of erythema, erythema involving the cheek or superciliary arch, visible red blood vessels, and papules (OR = 2.2745, 3.1592, 1.8365, 2.8647, and 1.4260, respectively). The candidate variables of dermoscopy included yellow background, white background, uniform distribution of vessels, branched vessels, and reticular blood vessels (OR = 0.4259, 0.4949, 2.2858, 3.7444, and 2.4576, respectively).
CONCLUSIONS
RCM, dermoscopy, and VISIA each can present several imageological features and were of certain value for assisting rosacea diagnosis. The combined analysis of these three tools using our MLP model may be useful for improving the accuracy of diagnosing rosacea.
Topics: Humans; Skin Neoplasms; Dermoscopy; Rosacea; Erythema; Microscopy, Confocal
PubMed: 35996670
DOI: 10.7717/peerj.13917 -
Frontiers in Pharmacology 2022Psoriasis is a chronic inflammatory skin disorder characterized by keratinocyte hyperproliferation and differentiation with increased immune cell infiltration. The...
Psoriasis is a chronic inflammatory skin disorder characterized by keratinocyte hyperproliferation and differentiation with increased immune cell infiltration. The anti-psoriatic effect of lavender oil has been reported. However, its phytoconstituents, linalool (L) and linalyl acetate (LA), showed a distinctive affinity with psoriasis targets. This investigation was aimed to determine the combined effect of L and LA in ameliorating psoriasis-like skin inflammation and its safety in long-term topical uses. The combined effect of L and LA was compared with their individual effects. The anti-psoriatic activity was performed using imiquimod (IMQ)-induced psoriasis in BALB/c mice and evaluated to reduce PASI and CosCam scores and Th-1 and Th-17 cell-specific cytokine levels. The acute and repeated dose dermal toxicities were investigated as per the OECD guidelines. L and LA combination (LLA) in the 1:1 w/w ratio at 2% concentration showed a synergistic effect. The combination showed 76.31% and 71.29% recovery in PASI and CosCam Scores; however, L2% and LA2% showed 64.28% and 47.61% recovery in PASI and 64.75 and 56.76% recovery in CosCam scores, respectively. It showed >90% and >100% recovery in Th-17 and Th-1 cell-specific cytokines, respectively, and restored epidermal hyperplasia and parakeratosis toward normal compared with psoriatic mice. A marked reduction in NF-κB, cck6, and the IL-17 expression was also observed in the LLA-treated group. This combination was safe in a therapeutically effective dose for 28 days as no significant changes were observed in organ and body weights, liver and kidney parameters, and differential leukocyte counts. This study proves the synergy between L and LA in a 1:1 w/w ratio at 2% in the treatment of psoriasis-like skin inflammation and provides strong scientific evidence for its safe topical use.
PubMed: 35991888
DOI: 10.3389/fphar.2022.913174 -
Frontiers in Medicine 2022Atopic dermatitis (AD) is a chronic recurrent inflammatory disease, and dupilumab, a human monoclonal antibody, is the firstly approved biological drug for AD....
Case report: Clinical and histopathological characteristics of psoriasiform erythema and IL-17A cytokines expression on lesioned skin in atopic dermatitis children treated with dupilumab.
BACKGROUND
Atopic dermatitis (AD) is a chronic recurrent inflammatory disease, and dupilumab, a human monoclonal antibody, is the firstly approved biological drug for AD. Psoriasiform erythema (PE) during dupilumab treatment in adults has been reported. This study describes the risk of PE in children after initiation of dupilumab treatment.
OBJECTIVES
To evaluate the cytokines gene expression in the transition of atopic dermatitis symptoms to psoriasiform erythema during dupilumab treatment in children.
METHODS
Two 17-year-old teenage twin patients with AD were included in this study who developed psoriasiform erythema after initiation of dupilumab. The lesional skin biopsy specimens were obtained for the histopathological investigation and RNA Fluorescence Hybridization (RNA-FISH). Dermoscopy, cytometry (cytokine detection in the blood), and blood investigations were completed for the pedigree and the lesioned descriptions.
RESULTS
Two twin patients with AD presented with erythematic scaly plaques on the back, scalp, abdomen, and extensor extremities after 20 weeks of dupilumab treatment. The transitional change of AD to psoriasiform erythema treated with dupilumab was observed. Our subjects' dermoscopy showed pinpoint bleeding and white scales on pink background. Histopathology features showed psoriasiform hyperplasia, epidermal hyperplasia (acanthosis), ectatic capillaries, perivascular lymphocytes infiltration, and parakeratosis, with the absence of the granular cell layer. mRNA (RNA-FISH) cytokines gene expression showed a significantly high concentration of IL-17A. Blood investigation results showed a high concentration of (Immunoglobulin E) IgE and Eosinophils, and cytokines detection in blood showed IL-5,6 and IL-17 in one patient; however, only IL-5 in another patient. The dupilumab was discontinued and initiated with Baricitinib. Baricitinib showed a significant reduction in skin lesions.
CONCLUSION
Psoriasiform erythema can appear during dupilumab treatment in atopic dermatitis children. Potently, by suppressing skewed Th2 activation in patients with AD, the balance might shift toward Th1/Th17 predominance, and psoriasis develops. Baricitinib is a potential drug for psoriasiform erythema with significant therapeutic effects.
PubMed: 35966849
DOI: 10.3389/fmed.2022.932766 -
The American Journal of Case Reports Aug 2022BACKGROUND Odontogenic keratocysts are odontogenic cysts that increase in dimension based on growth factors and have a high recurrence rate. The radiological features of...
BACKGROUND Odontogenic keratocysts are odontogenic cysts that increase in dimension based on growth factors and have a high recurrence rate. The radiological features of odontogenic keratocysts can be confusing owing to their similarity with other intraosseous cysts. The aim of treatment is to minimize patient morbidity and to reduce the risk of recurrence, along with complete surgical excision. CASE REPORT We report a case of a young man who presented to our hospital for a cystic lesion located in the posterior left mandible with clinical and radiological features of a dentigerous cyst. The lesion was treated accordingly for this diagnosis by enucleation. During surgery, a thick and firm cystic membrane was identified. Histopathological examination of the specimen established the final diagnosis of odontogenic keratocyst by identifying squamous epithelium with focal parakeratosis and ulceration and a diffuse inflammatory lymphoplasmacytic infiltrate. The patient's evolution was favorable, with no sign of recurrence on cone beam computed tomography examination at the 6-month follow-up and with healing of the surgical defect. CONCLUSIONS The diagnosis of odontogenic keratocyst is challenging, requiring preoperative 3-dimensional imaging and biopsy for extensive lesions. Adjuvant biochemical and immunological examination of cystic aspirate could sometimes be helpful for making a correct diagnosis. The treatment needs to be individualized according to the patient's age and the tumor's histopathological type and features. If the histopathological examination of surgical specimen indicates a more aggressive lesion than expected, a careful and individualized follow-up is imperative. No reintervention is needed if the patient does not present evidence of recurrence.
Topics: Humans; Male; Odontogenic Cysts; Odontogenic Tumors; Radiography
PubMed: 35923086
DOI: 10.12659/AJCR.936641 -
Clinical, Cosmetic and Investigational... 2022Granular parakeratosis is an uncommon acquired keratinization disorder that occurs in the armpit, groin, and other parts of the body. It may be related to stimulation by...
Granular parakeratosis is an uncommon acquired keratinization disorder that occurs in the armpit, groin, and other parts of the body. It may be related to stimulation by detergents and antiperspirants. This article reports a case of granular parakeratosis in the groin. The patient was a young man with no predisposing factors. The clinical manifestations included symmetrical bilateral inguinal erythema, dryness, and a small amount of bran-like desquamation. After histopathological examination, the final diagnosis was granular parakeratosis, which was cured by topical application of glucocorticoid cream and silicone oil cream. Granular parakeratosis is a rare skin disease of unknown etiology. Clinicians need to pay attention to this disease and differentiate it from various diseases to avoid misdiagnosis.
PubMed: 35874456
DOI: 10.2147/CCID.S371558 -
Pharmaceutics Jun 2022Recently, various types of in vitro-reconstructed 3D skin models have been developed for drug testing and disease modeling. Herein, we structurally and functionally...
Recently, various types of in vitro-reconstructed 3D skin models have been developed for drug testing and disease modeling. Herein, we structurally and functionally validated a self-assembled reconstructed skin equivalent (RSE) and developed an IL-17a-induced in vitro psoriasis-like model using a self-assembled RSE. The tissue engineering approach was used to construct the self-assembled RSE. The dermal layer was generated using fibroblasts secreting their own ECM, and the epidermal layer was reconstructed by seeding keratinocytes on the dermal layer. To generate the psoriatic model, IL-17A was added to the culture medium during the air-liquid interface culture period. Self-assembled RSE resulted in a fully differentiated epidermal layer, a well-established basement membrane, and dermal collagen deposition. In addition, self-assembled RSE was tested for 20 reference chemicals according to the Performance Standard of OECD TG439 and showed overall sensitivity, specificity, and accuracy of 100%, 90%, and 95%, respectively. The IL-17a-treated psoriatic RSE model exhibited psoriatic epidermal characteristics, such as epidermal hyperproliferation, parakeratosis, and increased expression of KRT6, KRT17, hBD2, and S100A9. Thus, our results suggest that a self-assembled RSE that structurally and functionally mimics the human skin has a great potential for testing various drugs or cosmetic ingredients and modeling inflammatory skin diseases.
PubMed: 35745784
DOI: 10.3390/pharmaceutics14061211 -
Romanian Journal of Morphology and... 2021Malignant tumors of the oral cavity have a growing incidence, most being squamous cell carcinomas, generally called oral cancers (OCs), clinically detected at various...
Malignant tumors of the oral cavity have a growing incidence, most being squamous cell carcinomas, generally called oral cancers (OCs), clinically detected at various stages of natural evolution. The increased incidence in Romania in recent years and the lack of conclusive data have led to the development of this study. The main purpose of this study was to assess the molecular profile of tumors, the types of blood vessels associated with the tumor, and expression of tumor immunomarkers. Regarding morphological findings, focal epithelial hyperplasia, dysplastic lesions, typical mitoses, perineural invasion, parakeratosis and keratosis beads, intracytoplasmic keratinization were observed. Microvascular density was higher in the tumor area compared to the peritumoral area. Lymphovascular invasion was identified in 13% of cases, which also presented regional lymph node metastases. Podoplanin expression was identified in 79% of cases which were tested positive for the D2-40 immunomarker. All p53-positive cases co-expressed epidermal growth factor receptor (EGFR), half of the EGFR-positive cases co-expressed p53, and co-expression of CD117 and p63 was identified in 80% of EGFR-positive∕cytokeratin 5 (CK5)-positive cases being proposed the basal-like subtype of OCs, defined as EGFR-positive∕CK5-positive, CD117-positive and p63-positive. Results support the need for molecular classification of OCs based on of tumor immunomarker expression and gene analysis.
Topics: Carcinoma, Squamous Cell; ErbB Receptors; Head and Neck Neoplasms; Humans; Immunohistochemistry; Mouth Neoplasms; Romania; Squamous Cell Carcinoma of Head and Neck; Tumor Suppressor Protein p53
PubMed: 35673812
DOI: 10.47162/RJME.62.4.05 -
CytoJournal 2022Cytology of the uterine cervix is one of the most widely utilized tests and is best known primarily for the cytologic changes seen in precancerous lesions and invasive... (Review)
Review
Cytology of the uterine cervix is one of the most widely utilized tests and is best known primarily for the cytologic changes seen in precancerous lesions and invasive cancer of the uterine cervix. The more common inflammatory conditions of cervicitis and vaginitis are close clinical differentials, especially when they give rise to excessive blood-stained vaginal discharge. These infective conditions also result in variation in the appearance of otherwise benign squamous and glandular cells in cervical cytology specimens. A variety of physiologic and pathologic conditions are responsible for the conversion of polymicrobial flora of the vagina to a monomicrobial one. The latter may overgrow the others and result in inflammation of the cervix and the vagina. Chronic irritation of the cervix due to intrauterine devices, chemical irritants, inflammation/infection, endocrine changes, and reparative changes can lead to worrisome parakeratosis, hyperkeratosis, and squamous metaplasia of non-keratinized squamous mucosa of the cervix and the vagina and may mimic HPV-related changes. Although some benign changes are specific for certain infections, for example, infestation, most of the reactive and hyperplastic cell morphology are important to recognize only due to the significant morphologic overlap with neoplastic changes in cytology specimens. Identification of different pathogens specifically may not be relevant from a clinical point of view, but is undoubtedly a cytologists' privilege to inform the clinician! This chapter describes in detail the cytoplasmic and nuclear reactive changes that are found in specific and non-specific inflammatory conditions. In addition, diagnostic pitfalls are emphasized where necessary.
PubMed: 35673696
DOI: 10.25259/CMAS_03_08_2021