-
The Journal of Dermatology Apr 2023Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare type of epidermal nevus involving the eccrine acrosyringia. It typically presents as asymptomatic...
Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare type of epidermal nevus involving the eccrine acrosyringia. It typically presents as asymptomatic linear keratotic papules and plaques along the lines of Blaschko and predominantly affects the extremities. This disease has recently been linked to somatic mutations within the GJB2 locus. Only four GJB2 mutations have been previously documented for PEODDN, and the underlying genetic basis remains inconclusive. Herein, we report an 18-year-old female with a hyperkeratotic plaque on the dorsa of the proximal interphalangeal joint of her right ring finger, as well as multiple small hyperkeratotic papules linearly distributed on the lateral sides of her fingers occurring since birth. Histopathological results revealed prominent parakeratotic cornoid lamella-like tiers at the opening of the eccrine secretory ducts. Whole-exome sequencing of the affected skin tissue revealed a heterozygous germline mutation and a postzygotic somatic mutation in GJB2. In summary, this study presents a case of PEODDN with compound heterozygous mutations in GJB2, which broadens the genetic spectrum of this disease entity and implies a possible role for second-hit mutations in the pathogenesis of PEODDN.
Topics: Adolescent; Female; Humans; Eccrine Glands; Hamartoma; Keratosis; Mutation; Nevus; Parakeratosis; Porokeratosis; Skin Neoplasms; Sweat Gland Diseases
PubMed: 36478599
DOI: 10.1111/1346-8138.16662 -
Frontiers in Immunology 2022To investigate the efficacy of indirubin combined with human umbilical cord mesenchymal stem cells (hUC-MSCs) in the treatment of psoriatic lesions in BALB/c mice and to...
OBJECTIVE
To investigate the efficacy of indirubin combined with human umbilical cord mesenchymal stem cells (hUC-MSCs) in the treatment of psoriatic lesions in BALB/c mice and to explore the related mechanism of indirubin in the treatment of psoriasis.
METHODS
A BALB/c mouse psoriasis model induced by imiquimod was established and randomly divided into the control group, model group, indirubin group, hUC-MSCs group, and indirubin combined with hUC-MSCs group. Psoriasis area and severity index (PASI) score was used to observe skin lesion changes in the psoriasis-like mouse model. The epidermal scale, the degree of keratinization, and the infiltration of inflammatory cells were observed by hematoxylin eosin (HE) staining. The concentrations of TNF-α, IFN-γ, IL-17A, and IL-23 in serum of mice were measured using enzyme-linked immunosorbent assay (ELISA).
RESULTS
The PASI integral trend chart indicates that hUC-MSCs and indirubin and the combination of drugs could relieve the appearance of skin lesions and accelerate the recovery of skin lesions. The indirubin group had the best effect in improving the scale of skin lesions. HE staining showed that the number of parakeratosis cells in the three treatment groups was significantly reduced, the degree of erythrocyte extravasation dermis hyperplasia and inflammatory cell infiltration was significantly lower than that in the model group, and the skin thickness and spleen index of the combined treatment group exhibited the most noticeable improvement. ELISA showed that the concentrations of TNF-α, IFN-γ, IL-17A, and IL-23 in serum of mice in the hUC-MSCs treatment group, indirubin group, and combined administration group were all decreased compared with those in the model group, and the concentrations of IFN-γ, IL-17A, and IL-23 could be decreased significantly in the indirubin group.
CONCLUSIONS
Both hUC-MSCs and indirubin can effectively reduce psoriasis-like lesions in BALB/c mice, and the combined administration of these drugs has the best effect.
Topics: Animals; Mice; Interleukin-17; Interleukin-23; Mesenchymal Stem Cells; Mice, Inbred BALB C; Psoriasis; Skin Diseases; Tumor Necrosis Factor-alpha; Umbilical Cord; Human Umbilical Vein Endothelial Cells; Humans
PubMed: 36466901
DOI: 10.3389/fimmu.2022.1033498 -
Journal of UOEH 2022A 30-year-old woman had recognized general fatigue and joint pain 5 years before her first visit to our hospital. Keratinized skin lesions were also observed on her...
A 30-year-old woman had recognized general fatigue and joint pain 5 years before her first visit to our hospital. Keratinized skin lesions were also observed on her hand, elbows, and other interstitial sites at the same time. She was referred to our department for evaluation of her skin eruption because psoriatic arthritis was suspected. A physical examination revealed hyperkeratotic, brownish plaques on her hand, elbows, and knees. Although a skin biopsy taken from her right hand could not confirm a diagnosis, another biopsy taken from her right elbow revealed hyperkeratosis and parakeratosis with agranulosis epithelial hyperplasia, indicating a diagnosis of psoriasis. Taking an additional skin biopsy from a site other than the main one can be helpful for a diagnosis of psoriatic arthritis.
Topics: Humans; Female; Adult; Arthritis, Psoriatic; Biopsy; Psoriasis; Physical Examination; Fatigue
PubMed: 36464313
DOI: 10.7888/juoeh.44.385 -
Diseases of the Esophagus : Official... Apr 2023Endoscopic eradication therapy (EET) is an effective treatment for Barrett's esophagus (BE); however, disease recurrence remains problematic requiring surveillance...
Endoscopic eradication therapy (EET) is an effective treatment for Barrett's esophagus (BE); however, disease recurrence remains problematic requiring surveillance post-treatment. While data regarding predictors of recurrence are limited, uncontrolled reflux may play a significant role. Our aim was to develop a scoring system based on histopathologic reflux in surveillance biopsies following EET to identify patients at high risk for recurrence of BE. Patients were identified from two centers in the treatment with resection and endoscopic ablation techniques for BE consortium. Hematoxylin and eosin-stained slides of surveillance biopsies post-EET were assessed for histologic changes associated with reflux from a cohort of patients who also underwent pH-metry (derivation cohort). We developed a novel scoring system (Recurrent Epithelial Changes from Uncontrolled Reflux [RECUR]) composed of dilated intercellular spaces, epithelial ballooning, basal cell hyperplasia, and parakeratosis, to identify patients with abnormal esophageal acid exposure. This scoring system was then used to grade surveillance biopsies from patients with or without recurrence of BE following EET (validation cohort). Of 41 patients in the derivation cohort, 19.5% had abnormal acid exposure times (AET) while on proton pump inhibitor therapy. The mean (SD) RECUR score for patients with AET <4% was 4.0 (1.6), compared with 5.5 (0.9) for AET ≥4% (P = 0.015). In the validation cohort consisting of 72 patients without recurrence and 64 patients with recurrence following EET, the RECUR score was the only significant predictor of recurrence (odds ratio: 1.36, 95% confidence interval: 1.10-1.69, P = 0.005). Histologic grading of surveillance biopsies using the RECUR scoring system correlates with BE recurrence following EET.
Topics: Humans; Esophagoscopy; Neoplasm Recurrence, Local; Barrett Esophagus; Metaplasia; Gastroesophageal Reflux; Esophageal Neoplasms
PubMed: 36446594
DOI: 10.1093/dote/doac078 -
Journal Der Deutschen Dermatologischen... Dec 2022Darier disease (DD) and Hailey-Hailey disease (HHD) are rare disorders caused by mutations in the ATPase, Sarcoplasmic/Endoplasmic Reticulum Ca Transporting 2 (ATP2A2)...
BACKGROUND AND OBJECTIVES
Darier disease (DD) and Hailey-Hailey disease (HHD) are rare disorders caused by mutations in the ATPase, Sarcoplasmic/Endoplasmic Reticulum Ca Transporting 2 (ATP2A2) and ATPase Ca Transporting Type 2C, Member 1 (ATP2C1) gene, respectively, which lead to a disturbance of calcium metabolism in keratinocytes. Clinically, this is reflected by an impairment of keratinization. Histologically, acantholysis with variable degrees of dyskeratosis and parakeratosis is observed. Both diseases can usually be differentiated clinically, histopathologically and genetically. However, their routine distinction might be challenging since some patients do not harbor ATP2A2 or ATP2C1 mutations. To solve this diagnostic challenge, we studied the differential expression of two proteins of store-operated calcium entry (SOCE), stromal interaction molecule 1 (STIM1) and calcium release-activated calcium modulator 1 (ORAI1), by immunohistochemistry.
PATIENTS AND METHODS
Five individuals with ambiguous diagnostic findings and eight controls with an unambiguous diagnosis were studied clinically, histologically, genetically, and by immunohistochemistry for STIM1 and ORAI1.
RESULTS
DD patients consistently showed a cytoplasmic STIM1 expression while patients with HHD revealed a membrane-associated staining pattern. In contrast, ORAI1 did not show a differential expression pattern.
CONCLUSIONS
Our data suggest subcellular compartmentalization of STIM1 as novel biomarker for the distinction of the two disorders.
Topics: Humans; Calcium; Calcium-Transporting ATPases; Darier Disease; Keratinocytes; Pemphigus, Benign Familial; Stromal Interaction Molecule 1; Diagnosis, Differential
PubMed: 36442136
DOI: 10.1111/ddg.14912 -
Pediatric Dermatology Nov 2022
Topics: Infant; Humans; Exanthema
PubMed: 36440993
DOI: 10.1111/pde.15111 -
Skin Research and Technology : Official... Jan 2023Reflectance confocal microscopy (RCM) and line-field confocal optical coherence tomography (LC-OCT) are non-invasive imaging devices that can help in the clinical...
BACKGROUND
Reflectance confocal microscopy (RCM) and line-field confocal optical coherence tomography (LC-OCT) are non-invasive imaging devices that can help in the clinical diagnosis of actinic keratosis (AK) and cutaneous squamous cell carcinoma (SCC). No studies are available on the comparison between these two technologies for the identification of the different features of keratinocyte skin tumours.
OBJECTIVES
To compare RCM and LC-OCT findings in AK and SCC.
METHODS
A retrospective multicenter study was conducted. Tumours were imaged with RCM and LC-OCT devices before surgery, and the diagnosis was confirmed by histological examinations. LC-OCT and RCM criteria for AK/SCC were identified, and their presence/absence was evaluated in all study lesions. Gwet AC1 concordance index was calculated to compare RCM and LC-OCT.
RESULTS
We included 52 patients with 33 AKs and 19 SCCs. Irregular epidermis was visible in most tumours and with a good degree of agreement between RCM and LC-OCT (Gwet's AC1 0.74). Parakeratosis, dyskeratotic keratinocytes and both linear dilated and glomerular vessels were better visible at LC-OCT than RCM (p < 0.001). Erosion/ulceration was identified with both methods in more than half of the cases with a good degree of agreement (Gwet AC1 0.62).
CONCLUSIONS
Our results suggest that both LC-OCT and hand-held RCM can help clinicians in the identification of AK and SCC, providing an in vivo and non-invasive identification of an irregular epidermis. LC-OCT proved to be more effective in identifying parakeratosis, dyskeratotic keratinocytes and vessels in this series.
Topics: Humans; Skin Neoplasms; Carcinoma, Squamous Cell; Tomography, Optical Coherence; Parakeratosis; Keratosis, Actinic; Microscopy, Confocal; Keratinocytes
PubMed: 36424847
DOI: 10.1111/srt.13215 -
The American Journal of Dermatopathology Dec 2022A 30-year-old African American woman with a history of interstitial lung disease presented with bilaterally symmetrical, nonpruritic, scaling and fissuring,...
A 30-year-old African American woman with a history of interstitial lung disease presented with bilaterally symmetrical, nonpruritic, scaling and fissuring, hyperpigmented, lichenified plaques on her hands and feet. She reported occasional erythema of her face, intermittent erythema, and irritation of her eyes but denied any muscle weakness. A biopsy of the plantar first toe showed hyperkeratosis, striking alternating ortho- and parakeratosis with underlying apoptotic bodies. There was psoriasiform acanthosis without suprapapillary thinning, numerous apoptotic keratinocytes in all layers of the epidermis extending into the corneum that were out of proportion with the minimal interface inflammation. Colloidal iron and Alcian blue stains showed increased dermal mucin deposition. Given the clinical, histopathological, and supportive serological findings (positive anti-KU and anti-SSA), a diagnosis of clinically amyopathic dermatomyositis with mechanic hand/hiker feet (MH/HF) was rendered. The pseudocheckerboard pattern of MH/HF has been previously reported in only 4 patients. The most frequent associations with MH/HF are dermatomyositis and antisynthetase syndrome; however, our patient was negative for antiaminoacyl transfer RNA synthetase antibodies, a required criterion to diagnose antisynthetase syndrome. It is imperative to recognize MH/HF clinically and histopathologically because it may be an early indication of developing dermatomyositis or other connective tissue diseases, which would guide further workup and screening for systemic involvement of the disease, including interstitial lung disease.
Topics: Adult; Female; Humans; Dermatomyositis; Keratosis; Lung Diseases, Interstitial
PubMed: 36395446
DOI: 10.1097/DAD.0000000000002240 -
Indian Dermatology Online Journal 2022Cutaneous lymphomas (CLs) could be either primary (PCL) or secondary; the former comprises cutaneous T-cell lymphomas (CTCLs) and cutaneous B-cell lymphomas (CBCLs)....
BACKGROUND
Cutaneous lymphomas (CLs) could be either primary (PCL) or secondary; the former comprises cutaneous T-cell lymphomas (CTCLs) and cutaneous B-cell lymphomas (CBCLs). Mycosis fungoides (MF) is the most common PCL. Diagnosis of early MF and distinguishing it from benign inflammatory mimics is challenging. This study aims to assess the clinicopathological spectrum of CL and to characterize early MF from its mimics using clinical characteristics, histopathological features, and ancillary techniques.
MATERIALS AND METHODS
This retro-prospective descriptive study was conducted in a tertiary-care institute, for over 5 years. Clinically as well as histopathologically suspected and biopsy-proven CL and their mimics were included. Cases were reviewed and subgrouped based on clinical and histopathological parameters and immunohistochemistry (IHC). Data were analyzed using descriptive statistics and a Chi-square test at a 5% level of significance.
RESULTS
Among PCL, CTCL comprised 84% (21/25) and CBCL was 16% (4/25); the most common CTCL was MF at 81% (17/21). Histologically, atypia of dermal infiltrate (100%), epidermotropism (91.7%), basal alignment of lymphocytes (91.7%), clear haloed cells (91.7%), wiry collagen (66.7%), grandiosity sign (50%), eccrine infiltration (66.7%), and follicular infiltration (50%) were significantly associated with early MF. Spongiosis (84.6%), pigment incontinence (84.6%), exocytosis (76.9%), and parakeratosis (76.9%) were significantly associated with inflammatory mimics. There was no significant difference in the downregulation pattern of CD7 ( = 0.206) between early MF and its mimics. The four cases of CBCL in our study were plasmablastic lymphoma, diffuse large B-cell lymphoma, follicular lymphoma, and lymphoblastic lymphoma.
CONCLUSION
MF was the most common PCL. Histological parameters showed a significant difference, whereas IHC did not show any significant difference between early MF and its mimics.
PubMed: 36386732
DOI: 10.4103/idoj.idoj_137_22 -
Cureus Oct 2022Pityriasis rubra pilaris (PRP) is a rare inflammatory papulosquamous skin disease that has six distinct types. Type 5 PRP is called atypical juvenile PRP. Here we report...
Pityriasis rubra pilaris (PRP) is a rare inflammatory papulosquamous skin disease that has six distinct types. Type 5 PRP is called atypical juvenile PRP. Here we report the case of a 17-year-old boy with insignificant past medical history presenting with a history of persistent slowly progressing very itchy skin lesions since the age of seven years. The lesions were photoaggravated. No similar cases in the family were observed and the parents were not consanguint. Skin examination revealed scaly erythematous patches, papules and plaques all over his body. There were also ichthyosiform-like scales covering the whole body. Hair, nails, and mucus membranes examinations were normal. A 4-mm punch skin biopsy was taken. The dermis revealed hyperkeratosis with checkerboard pattern of orthokeratosis and parakeratosis, the granular layer was preserved and acanthosis with thick and short rete ridges. The dermis showed mild perivascular lymphocytic infiltrates. On the basis of the above clinicopathological findings, the diagnosis of pityriasis rubra pilaris (atypical juvenile type) (type 5) was made. The patient was started on isotretinoin capsule 20 mg twice a day and placed under periodic follow-up.
PubMed: 36381776
DOI: 10.7759/cureus.30234