Dermoscopy and Trichoscopy in Dermatomyositis—A Cross-Sectional Study

Background: (Video)dermoscopy is a non-invasive diagnostic technique that has a well-established role in dermatooncology. In recent years, this method has also been increasingly used in the assessment of inflammatory dermatoses. So far, little is known about the (video)dermoscopic features of dermatomyositis (DM). Methods: Consecutive patients with DM were included in the study and videodermoscopic assessments of the nailfolds, scalp, and active skin lesions were performed. Results: Fifteen patients with DM (10 women and 5 men) were included. Capillaroscopy showed elongated capillaries (90.9%), avascular areas (81.8%), disorganized vessel architecture (81.8%), tortuous capillaries (72.7%), dilated capillaries (72.7%), and hemorrhages (72.7%). The trichoscopic findings included linear branched vessels (80.0%), linear vessels (60.0%), linear curved vessels (53.3%), perifollicular pigmentation (40.0%), perifollicular erythema (33.3%), scaling (20.0%), white (20.0%) or yellow (20%) interfollicular scales, and white (20.0%) or pinkish (13.3%) structureless areas. Polymorphic vessels of an unspecific distribution and white or pink structureless areas were frequently observed under dermoscopy in cutaneous manifestations of DM, including Gottron’s papules and Gottron’s sign. Conclusions: Dermoscopy of the nailfolds (capillaroscopy), scalp (tricoscopy), and active cutaneous lesions may be of value in the preliminary diagnosis of DM.

Segmental neurofibromatosis with compression of the spinal cord at the cervical level. Literature review and case report

Background. Neurofibromatosis is a fairly rare disease (1/3000). In 1992, V. Riccardi described seven types of neurofibromatosis. Segmental neurofibromatosis (sh), also known as type V neurofibromatosis, is an extremely rare variant characterized by the development of typical cutaneous manifestations or one body segment neurofibromas. Clinical case. Currently, the literature describes about 100 cases of sh and only one of them with compression of the spinal cord. We present our first case of this nosological form with spinal cord compression in a Russian patient. A 70-year-old patient, due to an increasing paresis in the left extremities, underwent mri of the cervical spine, which revealed solid tumors located extramedullary intra-extradurally at the level of c2-c3 vertebrae with pronounced compression of the spinal cord. At the time of hospitalization, clinical presentation was characterized by deep spastic tetraparesis (1–2 points), impairment of all types of sensitivity from the c4 level by the conductive type, and dysfunction of the pelvic organs by the type of delay. Karnofsky index was 50 %, 2 points on the Fim scale. Standard c2-c3 vertebrae laminectomy was performed. Spinal cord compression was eliminated due to the removal of intradural tumors. Subsequently, extradural tumors were removed step by step. On histological examination, tumors were represented by intertwining bundles of elongated schwann cells with wavy nuclei with pointed ends and ileogenic fibers. Mucin present in the stroma separated cells and fibers. Conclusion. Sn is a rare type of neurofibromatosis. However, from the point of view of genetics, it is most likely incorrect to attribute it to a separate type of neurofibromatosis, since the cause of its development is mosaicism of somatic cells due to mutation of the NF 1 gene. Sn is rarely manifested by the development of spinal nerves multiple neurofibromas, however, it can be accompanied by a gross neurological deficit caused by compression of the spinal cord such neurofibromas. Surgical treatment is based on basic and special surgical principles that determine the anatomical and morphological characteristics of the area of intervention, the compliance of which allows for good treatment results.

Osteopetrosis in a Patient of Systemic Sclerosis Sine Scleroderma: A Rare Association

Systemic sclerosis is a connective tissue disorder of unknown etiology. Although it is a multisystemic disorder, skin thickening is considered as a hallmark of the disease. It usually involves the lungs, gastrointestinal, and musculoskeletal systems. However, a rare subset of systemic sclerosis, systemic sclerosis sine scleroderma, is characterized by internal organ involvement and positive serologic markers with the total or partial absence of cutaneous manifestations. We present a rare association of osteopetrosis in a case of systemic sclerosis sine scleroderma, in a 22-year-old male patient, who presented with pulmonary symptoms as his chief complaints, unreported so far in literature.

The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort

The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited disease that has undergone extensive phenotypic expansion since being first described in patients with fevers, recurrent strokes, livedo racemosa, and polyarteritis nodosa in 2014. It is now recognized that patients may develop multisystem disease that spans multiple medical subspecialties. Here, we describe the findings from a large single center longitudinal cohort of 60 patients, the broad phenotypic presentation, as well as highlight the cohort’s experience with hematopoietic cell transplantation and COVID-19. Disease manifestations could be separated into three major phenotypes: inflammatory/vascular, immune dysregulatory, and hematologic, however, most patients presented with significant overlap between these three phenotype groups. The cardinal features of the inflammatory/vascular group included cutaneous manifestations and stroke. Evidence of immune dysregulation was commonly observed, including hypogammaglobulinemia, absent to low class-switched memory B cells, and inadequate response to vaccination. Despite these findings, infectious complications were exceedingly rare in this cohort. Hematologic findings including pure red cell aplasia (PRCA), immune-mediated neutropenia, and pancytopenia were observed in half of patients. We significantly extended our experience using anti-TNF agents, with no strokes observed in 2026 patient months on TNF inhibitors. Meanwhile, hematologic and immune features had a more varied response to anti-TNF therapy. Six patients received a total of 10 allogeneic hematopoietic cell transplant (HCT) procedures, with secondary graft failure necessitating repeat HCTs in three patients, as well as unplanned donor cell infusions to avoid graft rejection. All transplanted patients had been on anti-TNF agents prior to HCT and received varying degrees of reduced-intensity or non-myeloablative conditioning. All transplanted patients are still alive and have discontinued anti-TNF therapy. The long-term follow up afforded by this large single-center study underscores the clinical heterogeneity of DADA2 and the potential for phenotypes to evolve in any individual patient.

Pyoderma Gangrenosum Induced by BNT162b2 COVID-19 Vaccine in a Healthy Adult

(1) Background: Pyoderma gangrenosum (PG) is a rare neutrophilic dermatosis of unknown etiology. Coronavirus disease 2019 (COVID-19) vaccines can cause a variety of adverse cutaneous manifestations. PG associated with mRNA vaccines has not previously been described. This case study reports on the first patient to develop PG after receiving BNT162b2. (2) Case Presentation: An otherwise-healthy 27-year-old man developed multiple skin lesions 24 h after receiving the first dose of the messenger RNA-based Pfizer/BioNTech BNT162b2 COVID-19 vaccine. When in hospital, he developed a new painful ulcerative lesion on his right hand. Skin ulcer edge biopsy showed severe epidermal neutrophilic infiltrate with epidermal and dermal edema, underlying superficial dermal necrosis, and characteristic undermining with extensive mixed inflammatory infiltration of the dermis and abscess formation consistent with an ulcer with mixed dermal inflammation compatible with pyoderma gangrenosum. The lesion showed rapid improvement after the initiation of immunosuppressive therapy. (3) Conclusions: PG may be a rare adverse event related to the BNT162b2 vaccine, which could be more frequently encountered with the wide-scale use of mRNA vaccines. The continuous monitoring and surveillance of skin manifestations post-vaccination is essential.

Juvenile lupus, cytomegalovirus infection and cardiac tamponade: case report

ABSTRACT Objective: To describe a rare case of cardiac tamponade in a pediatric patient with systemic lupus erythematosus (SLE) and cytomegalovirus (CMV) infection, and to discuss the relationship between these morbidities, the diagnostic approach, and the possible treatments. Case description: A 9-year-old girl presented to the emergency department with severe dyspnea, muffled heart sounds, jugular vein distention, hemodynamic instability, and intense pallor. She had previously been followed up at the outpatient clinic for a six-month history of mild respiratory distress, polyarthritis, fever, and various cutaneous manifestations. Doppler echocardiogram revealed pericardial effusion. The patient was submitted to pericardiocentesis followed by water seal pleuropericardial drainage, with no complications. The investigation continued, with fulfillment of clinical and laboratory SLE criteria plus CMV antigenemia of 15/200,000 cells. Medications to control CMV infection and SLE were then initiated, with good clinical and laboratory response. Comments: Pediatric SLE commonly manifests in a more severe form, accounting for high morbimortality. Cardiac tamponade could be one of the first manifestations of SLE, which can also be precipitated by infectious agents, such as CMV, leading to diagnostic confusion and misleading the treatment. Changes in therapeutics must also be considered in the presence of both conditions. This study presents a juvenile SLE case aggravated by a CMV infection with the unusual manifestation of cardiac tamponade.%

Delayed allergic skin reactions to vaccines

Background: Recent advances in vaccination against the severe acute respiratory syndrome coronavirus 2 pandemic have brought allergists and dermatologists to the forefront because both immediate and delayed hypersensitivity reactions have been reported. Objective: This literature review focused on delayed reactions to vaccines, including possible causative agents and practical information on how to diagnose, evaluate with patch testing, and manage subsequent dose administration. Methods: Currently published reviews and case reports in PubMed, along with data on vaccines from the Centers for Disease Control and Prevention web site. Relevant case reports and reviews that focused on delayed reactions to vaccines were selected. Results: Most delayed hypersensitivity reactions to vaccines include cutaneous manifestations, which vary from local persistent pruritic nodules to systemic rashes. The onset is usually within a few days but can be delayed by weeks. Multiple excipients have been identified that have been implicated in delayed vaccine reactions, including thimerosal, formaldehyde, aluminum, antibiotics, and gelatin. Treatment with antihistamines, topical corticosteroids, or systemic corticosteroids alleviates symptoms in most patients. Such reactions are generally not contraindications to future vaccination. However, for more-severe reactions, patch testing for causative agents can be used to aid in diagnosis and approach further vaccination. Conclusion: Delayed-type hypersensitivity reactions to vaccines are not uncommon. If needed, patch testing can be used to confirm agents, including antibiotics, formaldehyde, thimerosal, and aluminum. In most cases, delayed cutaneous reactions are not contraindications to further vaccine administration.

Gianotti-Crosti Syndrome in a Child with Recent Covid-19 Infection: A Case Report

Gianotti-Crosti Syndrome is a rare skin disease affecting children at the first years of age. The condition is clinically featured by blisters on the skin of the legs, buttocks and arms. A history of viral infection preceding the disease was reported for many cases. A 12-month-old boy, free of any medical illnesses, was presented with a history of acute-onset rash for five days prior to presentation that was preceded by a history of fever for two days then subsided. The rashes appeared initially on his buttocks, then spread to his upper and lower extremities and trunk. The child had fever, sore throat and coryza symptoms with lethargy. A polymerase chain reaction (PCR) swab was taken to test for SARS-CoV-2, which was positive two weeks before rash onset. All symptoms resolved in 1 week with supportive therapy and the current rashes appeared two weeks later in the patient. Gianotti–Crosti syndrome may follow the active phase of infection for some cases. It should not be misdiagnosed with dermatological simple eruptive disorders. The clinical features for covid-19 associated infection are typical for the well-known clinical picture of the syndrome. The case was reported to improve clinicians’ awareness and help in better understanding and reporting cutaneous manifestations of COVID-19. Keywords: Gianotti-Crosti Syndrome; Infants; Children; covid-19; Corona