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Frontiers in Genetics 2021Hailey-Hailey disease (HHD) is a rare autosomal-dominant blistering disorder characterized by recurrent vesicular and erosive lesions at intertriginous sites. We...
Hailey-Hailey disease (HHD) is a rare autosomal-dominant blistering disorder characterized by recurrent vesicular and erosive lesions at intertriginous sites. We described a 24-year-old male who presented with multiple bright red verrucous papules in his mons pubis, bilateral groins, scrotum, perineum, and crissum, clinically resembling condyloma acuminatum. The histopathology showed extensive acantholysis with the characteristic appearance of a dilapidated brick-wall. The mutation analysis revealed a novel splice-site mutation in the gene. The patient was definitely diagnosed with HHD. The antibacterial treatments resulted in a dramatic improvement. Our findings help to broaden the understanding of clinical manifestations of HHD and improve the clinical diagnosis and treatment of this disease.
PubMed: 34970303
DOI: 10.3389/fgene.2021.777630 -
JAAD Case Reports Jan 2022
PubMed: 34888407
DOI: 10.1016/j.jdcr.2021.09.042 -
Clinical Medicine Insights. Case Reports 2021Squamous cell carcinoma is the most common mucosal malignancy of the head and neck. Adenoid pseudo-angiosarcomatous SCC is a rare variant occurring commonly in the skin...
Squamous cell carcinoma is the most common mucosal malignancy of the head and neck. Adenoid pseudo-angiosarcomatous SCC is a rare variant occurring commonly in the skin of the head and neck. However, involvement of oral cavity is extremely rare, with only few case reports in the English literature. Morphologically, the tumor shows marked acantholysis, with anastomozing channels mimicking vascular neoplasms. This variant represents a diagnostic challenge for pathologists, and immunohistochemical analysis remains essential for an accurate diagnosis. Herein, we describe the case of a pseudovascular SCC of the oral cavity in a 67 years old man with a brief revue of the literature to raise awareness on this rare variant; presenting diagnostic difficulties.
PubMed: 34840502
DOI: 10.1177/11795476211060177 -
Frontiers in Medicine 2021Pemphigus is a group of autoimmune-mediated mucocutaneous blistering diseases characterized by acantholysis. Pemphigus has also been recognized in dogs and shares...
Pemphigus is a group of autoimmune-mediated mucocutaneous blistering diseases characterized by acantholysis. Pemphigus has also been recognized in dogs and shares similar clinical characteristics and variants with human pemphigus. While relationships between human and canine pemphigus have been reported, gene expression patterns across species have not been described in the literature. We sought to perform gene expression analysis of lesional skin tissue from four dogs with various forms of pemphigus to examine gene expression during spontaneous disease in dogs. We found increased T and B cell signatures in canine pemphigus lesions compared to controls, as well as significant upregulation of , and , among other genes. Similar chemokine/cytokine expression patterns and immune infiltrates have been reported in humans, suggesting that these genes play a role in spontaneous disease. Direct comparison of our dataset to previously published human pemphigus datasets revealed five conserved differentially expressed genes: , and . Our data expands our understanding of pemphigus and facilitates identification of biomarkers for prediction of disease prognosis and treatment response, which may be useful for future veterinary and human clinical trials.
PubMed: 34660634
DOI: 10.3389/fmed.2021.723982 -
Journal of Clinical Medicine Oct 2021Genetic variants that result in truncation in () are a known cause of arrhythmogenic cardiomyopathy (AC). In homozygous carriers, the combined involvement of skin and...
Genetic variants that result in truncation in () are a known cause of arrhythmogenic cardiomyopathy (AC). In homozygous carriers, the combined involvement of skin and heart muscle is well defined, however, this is not the case in heterozygous carriers. The aim of this work is to describe cutaneous findings and analyze the molecular and ultrastructural cutaneous changes in this group of patients. Four women and eight men with a mean age of 48 ± 14 years were included. Eight met definitive criteria for AC, one was borderline and three were silent carriers. No relevant macroscopic changes in skin and hair were detected. However, significantly lower skin temperature (29.56 vs. 30.97 °C, = 0.036) and higher transepidermal water loss (TEWL) (37.62 vs. 23.95 g m 2 h 1, = 0.028) were observed compared to sex- and age-matched controls. Histopathology of the skin biopsy showed widening of intercellular spaces and acantholysis of keratinocytes in the spinous layer. Immunohistochemistry showed a strongly reduced expression of DSP in all samples. Trichogram showed regular nodules (thickening) compatible with pseudomonilethrix. Therefore, regardless of cardiac involvement, heterozygous patients with truncation-type variants in have lower skin temperature and higher TEWL, constant microscopic skin involvement with specific patterns and pseudomonilethrix in the trichogram.
PubMed: 34640625
DOI: 10.3390/jcm10194608 -
International Journal of Molecular... Sep 2021The chemical milieu, microbiota composition, and immune activity show prominent differences in distinct healthy skin areas. The objective of the current study was to...
The chemical milieu, microbiota composition, and immune activity show prominent differences in distinct healthy skin areas. The objective of the current study was to compare the major permeability barrier components (stratum corneum and tight junction (TJ)), investigate the distribution of (corneo)desmosomes and TJs, and measure barrier function in healthy sebaceous gland-rich (SGR), apocrine gland-rich (AGR), and gland-poor (GP) skin regions. Molecules involved in cornified envelope (CE) formation, desquamation, and (corneo)desmosome and TJ organization were investigated at the mRNA and protein levels using qRT-PCR and immunohistochemistry. The distribution of junction structures was visualized using confocal microscopy. Transepidermal water loss (TEWL) functional measurements were also performed. CE intracellular structural components were similarly expressed in gland-rich (SGR and AGR) and GP areas. In contrast, significantly lower extracellular protein levels of (corneo)desmosomes (DSG1 and CDSN) and TJs (OCLN and CLDN1) were detected in SGR/AGR areas compared to GP areas. In parallel, kallikrein proteases were significantly higher in gland-rich regions. Moreover, gland-rich areas were characterized by prominently disorganized junction structures ((corneo)desmosomes and TJs) and significantly higher TEWL levels compared to GP skin, which exhibited a regular distribution of junction structures. According to our findings, the permeability barrier of our skin is not uniform. Gland-rich areas are characterized by weaker permeability barrier features compared with GP regions. These findings have important clinical relevance and may explain the preferred localization of acantholytic skin diseases on gland-rich skin regions (e.g., Pemphigus foliaceus, Darier's disease, and Hailey-Hailey disease).
Topics: Acantholysis; Adult; Aged; Epidermis; Female; Humans; Male; Middle Aged; Permeability; Sebaceous Glands; Tight Junctions
PubMed: 34638769
DOI: 10.3390/ijms221910428 -
Case Reports in Dermatology 2021Darier's disease is a rare genodermatosis characterized clinically by dyskeratotic papules in the seborrheic and intertriginous areas and nail abnormalities....
Darier's disease is a rare genodermatosis characterized clinically by dyskeratotic papules in the seborrheic and intertriginous areas and nail abnormalities. Dyskeratosis and acantholysis are typical histological findings. Darier's disease is not known to be inflammatory by nature as inflammation occurs primarily due to local infections, and it may therefore differ from inflammatory dermatoses such as psoriasis and cutaneous lupus in response to antigen stimulation. Known triggers of Darier's disease primarily include exogenous factors such as sun exposure, friction, or infection. We present a case of a 47-year-old white female with a flare of Darier's disease 2 days following her first vaccination with COVID-19 vaccine (ChAdOx1-s [recombinant]) (Vaxzevria [previously known as COVID-19 vaccine AstraZeneca]). In this case report, we discuss possible mechanisms linking the vaccination and the flare of Darier's disease. We consider inflammatory mechanisms as well as a random co-occurrence. Due to the close time-related association between the disease flare and the COVID-19 vaccination, we find an urge to make other clinicians aware of a possible association.
PubMed: 34594203
DOI: 10.1159/000517256 -
Frontiers in Immunology 2021The presence of anti-desmocollin (Dsc) antibodies is rarely described in autoimmune blistering diseases patients. Moreover, several clinical phenotypes of pemphigus may...
The presence of anti-desmocollin (Dsc) antibodies is rarely described in autoimmune blistering diseases patients. Moreover, several clinical phenotypes of pemphigus may be associated with these antibodies. In this review we analyze clinicopathological, immunologic and outcome features of anti-Dsc autoimmune blistering diseases patients, to improve their diagnosis and management. We conducted a systematic search of PubMed and Embase (1990-present) for studies reporting cases of autoimmune blistering diseases with anti-Dsc antibodies. We classified the selected patients as patients with exclusively anti-Dsc autoantibodies, and patients with anti-Dsc and other autoantibodies. Of 93 cases with anti-Dsc autoantibodies included, 38 (41%) had exclusively these antibodies. Only 18% of patients presented with the typical clinicopathological phenotype of pemphigus vulgaris or pemphigus foliaceous. Mucosal involvement was seen in approximately half of the patients. Up to 18% of cases were associated with neoplasms. Acantholysis was described in 54% of cases with histopathological information. Treatments and outcomes vary in the different clinical phenotypes. The presence of anti-Dsc antibodies must be suspected mainly in those patients with either atypical pemphigus, in special with clinical pustules, or in cases showing intraepithelial or dermal neutrophilic/eosinophilic infiltrate on histological examination and dual pattern by direct immunofluorescence examination.
Topics: Acantholysis; Animals; Autoantibodies; Autoimmunity; Desmocollins; Desmogleins; Eosinophils; Humans; Neutrophils; Pemphigus; Phenotype; Skin
PubMed: 34567003
DOI: 10.3389/fimmu.2021.740820 -
Journal of the European Academy of... Dec 2021The treatment of keratinocyte cancers (KC) strictly depends on their differentiation and invasiveness. Non-invasive diagnostic techniques can support the diagnosis in...
BACKGROUND
The treatment of keratinocyte cancers (KC) strictly depends on their differentiation and invasiveness. Non-invasive diagnostic techniques can support the diagnosis in real time, avoiding unnecessary biopsies. This study aimed to preliminarily define main imaging criteria and histological correlations of actinic keratosis (AK), Bowen's disease (BD) and squamous cell carcinoma (SCC) using the novel device line-field confocal optical coherence tomography (LC-OCT).
METHODS
Dermoscopy and LC-OCT images of 73 histopathologically confirmed lesions (46 AKs, 11 BD and 16 SCCs) were included in the study. Exemplary lesions (10 AKs, 5 BD and 5 SCCs) were additionally investigated with optical coherence tomography and reflectance confocal microscopy.
RESULTS
Most common LC-OCT findings of KC in the descriptive statistics were hyperkeratosis/parakeratosis, disruption of stratum corneum, broadened epidermis, basal and suprabasal keratinocyte atypia, dilated vessels/neoangiogenesis and elastosis/collagen alterations. In the univariate multinomial logistic regression, a preserved DEJ was less common in SCC compared with AK and BD, BD displayed marked keratinocyte atypia involving all epidermal layers (bowenoid pattern), while SCC showed ulceration, increased epidermal thickness, keratin plugs, acantholysis, not visible/interrupted DEJ and epidermal bright particles. LC-OCT increased the diagnostic confidence by 24.7% compared with dermoscopy alone.
CONCLUSIONS
Our study describes for the first time specific LC-OCT features of different stages of KC and their histopathological correlates, focusing on keratinocyte morphology and architecture of the epidermis and DEJ. LC-OCT may open new scenarios in the bedside diagnosis, treatment planning and follow-up of KC.
Topics: Bowen's Disease; Humans; Keratinocytes; Keratosis, Actinic; Skin Neoplasms; Tomography, Optical Coherence
PubMed: 34415646
DOI: 10.1111/jdv.17603 -
Indian Journal of Surgical Oncology Jun 2021Pseudo-vascular adenoid squamous cell carcinoma (PASCC) is an uncommon histological variant. It is characterized by an acantholysis of the tumor cells and the formation...
Pseudo-vascular adenoid squamous cell carcinoma (PASCC) is an uncommon histological variant. It is characterized by an acantholysis of the tumor cells and the formation of anastomosing spaces and channels. It gives a false appearance of glandular differentiation mimicking angiosarcoma. PASCC has been reported in the head and neck, as well as in other organs like the breast, lungs, urinary bladder, vulva, and the uterine cervix. We report a case of PASCC of the oral cavity in a recently operated case of squamous cell carcinoma of the buccal mucosa.
PubMed: 34295075
DOI: 10.1007/s13193-021-01335-3