Finding at dermatologist’s appointment: linear porokeratosis

2021 ◽  
pp. 45-48
Author(s):  
N. E. Manturova ◽  
A. L. Rodina

The article deals with the epidemiology, pathomorphological picture, trigger factors of development, clinical manifestations and forms, diagnosis, and peculiarities of treatment of linear porokeratosis. A clinical case is presented.Purpose of the article. To consider the clinical manifestations and peculiarities of the course of porokeratosis, paying special attention to linear porokeratosis and its management tactics.Material and methods. The article presents a clinical case of linear porokeratosis. The analysis of medical records was carried out. The forms of porokeratosis, clinical manifestations, peculiarities of diagnosis and approaches to the treatment of porokeratosis in modern conditions are considered.Results. This clinical case demonstrates the difficulty of making a diagnosis of linear porokeratosis. The diagnosis was made based on the results of histological examination of biopsy material. A tactic for the management of the patient was developed.Conclusions. Porokeratosis is a rare skin disease with a wide range of clinical variants, which is important for clinicians to know in order to make a correct diagnosis and avoid errors in diagnosis. The clinical manifestations of the disease are varied, with localized, disseminated, and rash forms.

2020 ◽  
Vol 22 (7) ◽  
pp. 54-56
Author(s):  
Kristina T. Plieva ◽  
◽  
Elena V. Denisova ◽  
Maksim A. Bobrov ◽  
Dzerassa R. Mildzikhova ◽  
...  

Devergie disease, or pityriasis rubra pilaris, is a poorly studied and rare disease, which prevalence is estimated at about 1 in 400 thousand. The article provides relevant data on the classification of Devergie disease, features of the course and clinical manifestations of each of the 6 types of the disease, as well as the ap-proximate occurrence of these types. Erythroderma can occur in Devergie disease, but data on the incidence of this manifestation vary significantly. The article presents a clinical case of type 1 Devergie disease. This case is of particular interest, since the disease began not according to the classical scheme, i.e., with appearance of an erythematous spot, but with extensive areas of erythroderma. This case is intended to draw attention to the fact that dermatological diseases do not always develop in a typical way, and the correct diagnosis often requires a histological examination. Key words: pityriasis rubra pilaris, Devergie disease, erythroderma, clinical case. For citation: Plieva K.T., Denisova E.V., Bobrov M.A. et al. Rare dermatological diseases: Devergie disease. Consilium Medicum. 2020; 22 (7): 54–56. DOI: 10.26442/20751753.2020.7.200187


2020 ◽  
Vol 20 (1) ◽  
pp. 102-105 ◽  
Author(s):  
Hossein A. Rahdar ◽  
Mansoor Kodori ◽  
Mohamad R. Salehi ◽  
Mahsa Doomanlou ◽  
Morteza Karami-Zarandi ◽  
...  

Background: Brucellosis, a major health problem in developing countries, is a multisystem infection with a broad spectrum of clinical manifestations. Hematological complications, ranging from an intravascular coagulopathy to mild homeostasis disorders (such as gammopathy), have been reported in brucella infection. These signs and symptoms may lead to misdiagnosis of brucellosis with other hematological diseases. Case: A 65-year-old male whose occupation was shepherding was referred to our hospital as a known case of multiple myeloma with continuous fever, muscle weakness, and night sweating after taking 2 courses of chemotherapy. The laboratory diagnosis of multiple myeloma had been based on the observation of a high percent of plasma cells in the bone marrow aspiration. At follow- up, the result of patient's fever workup, with 2 sets of blood cultures, was positive for Brucella melitensis. Isolated brucella was confirmed as B. melitensis by 16S rRNA sequencing. Brucellosis serologic test was performed by agglutination test and positive results were obtained. The patient was discharged with the cessation of fever and general improvement after the end of the parental treatment phase of brucella bacteremia. Conclusions: Brucella infection may cause a severe disease, mimicking a primary hematological disease, which could complicate the correct diagnosis. In brucellosis cases, due to the wide range of symptoms, in addition to cultivation and serological methods, molecular methods should also be used to prevent inappropriate diagnosis and additional costs.


2020 ◽  
Vol 11 (4) ◽  
pp. 83-89
Author(s):  
Marina V. Grushina ◽  
Ilya Sergeevich Grekov ◽  
Kseniya D. Arkhypova

Background. Nonspecific aortoarteritis, or Takayasus disease, is one of the most complex and rare pathologies in modern clinical practice. It is the orphan nature of the disease, along with non-specific clinical manifestations, that causes a large number of clinical and diagnostic errors that lead to an unfavorable prognosis and early disability of patients. Despite the development of modern methods of treatment of nonspecific aortoarteritis, in some cases it is not possible to achieve a stable remission, which leads to a steady progression of the pathological process. Clinical case description. The article presents a case of a rapidly progressing course of Takayasu's disease in a young woman with multiple arterial vascular lesions that developed during the first year after the onset of arterial hypertension, while the narrowing of the carotid arteries (7585%) was not accompanied by signs of cerebral ischemia. The follow-up period was 10 years. Conclusion. Given the peculiarities of this nosology, each identified case of Takayasus disease is of great clinical and practical interest. The disease peculiarity in thise patient is that during the first year from the onset of arterial hypertension, the main occlusive lesions of the aorta and arterial vessels were identified. At the same time, the narrowing of the carotid arteries (7585%) was not accompanied by signs of cerebral ischemia. It should be noted that often the symptoms of non-specific aortoarteritis appear under the masks of other diseases, which requires a careful differential search. A correct diagnosis and timely treatment can prevent the development of complications and slow the progression of the disease.


Author(s):  
Sergey A. Levakov ◽  
Ainur E. Mamedova ◽  
Gyullar Y. Azadova ◽  
Sergey V. Paukov

Endometriosis is a chronic hormone-dependent progressive disease characterized by the presence of ectopic endometrioid tissue. Most often, endometriosis affects the ovaries, fallopian tubes and the abdominal cavity, but endometrioid foci are also found in the intestines, heart, lungs, skin and other atypical localizations. This article presents a clinical case of retrocervical endometriosis diagnosed based on the results of pathological and histological examination. It is important to note the complexity of the differential diagnosis of this form of endometriosis due to secondary changes in the area of the colon and the absence of characteristic clinical manifestations.


2020 ◽  
Vol 28 (1) ◽  
pp. 67-72
Author(s):  
Grigory A. Ignatenko ◽  
Ilya S. Grekov ◽  
Marina V. Grushina ◽  
Anna V. Dubovyk

The primary hyperaldosteronism also known as Conns syndrome, is a rarely diagnosed disease that commonly runs under a mask of ischemic heart disease and the primary arteria hypertension (AH). Nevertheless, the incidence of the given pathology among all patients with AH makes almost 17%. On the other hand, the absence of specific clinical manifestations of the disease makes its timely and correct diagnosis difficult which is fraught with serious complications. In the article a clinical case of Conns syndrome and peculiarities of its diagnosis are described.


2019 ◽  
Vol 47 (1) ◽  
pp. 83-93
Author(s):  
Yu. Yu. Kotalevskaya ◽  
N. M. Marycheva

Background: Epidermolysis bullosa (EB) is a rare hereditary skin disease. It is subdivided into EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler syndrome. JEB is diagnosed in 2 per 1,000,000 of the population. There are few descriptions of clinical JEB cases in the literature. Clinical diagnosis of JEB and its subtypes is a challenge, especially in the early age. The paper presents 2 clinical cases of JEB in patients of the West Slavonic origin. Clinical case No. 1 was a girl of Ukrainian ethnicity, with confirmed definitive diagnosis of severe generalized JEB. Molecular genetic tests identified mutations of the LAMA3 gene that had not been described previously. The patient died at the age of 24 months from acute respiratory failure. When the patient was alive, her EB type and subtype was not possible to identify, because she had a combination of clinical manifestations typical for various JEB subtypes. Despite such symptoms as hoarse voice, stenoses, granulation tissue of typical location, laryngeal granulations, the girl was steadily gaining weight, with some periods of relative stabilization of the skin disease; she also had longer life longevity than was common for patients with severe generalized JEB. All this made a precise diagnosis difficult. Clinical case No. 2: an ethnic Russian boy with non-classified JEB. Molecular genetic testing helped to identify a homozygote mutation in the LAMA3 gene that had not been previously described; reliable determination of the subtype was not possible. The patient had mixed clinical manifestation similar both to generalized severe JEB and to laryngo-onycho-cutaneous (LOC) syndrome. During his lifetime, the patient was clinically diagnosed with Hallopeau acrodermatitis and LOC syndrome. The differential diagnostic problems were associated with the presence of signs not typical for each of the subtypes. Significant life longevity of the proband is not characteristic for severe generalized JEB (at the time of the publication the patient is 13 years old), whereas for LOC syndrome the absence of eye involvement is not typical, as well as severe laryngeal involvement at adolescence.Conclusion: Detailed descriptions of phenotype of JEB subtypes including rare and minimal clinical signs can be useful to study the clinical manifestations and natural course of the disease, including its differential diagnosis.


2015 ◽  
Vol 7 (3) ◽  
Author(s):  
Juan P. E. Febriansyah ◽  
Grace M. Kapantow ◽  
Agus Hariyanto

Abstract: Atopic dermatitis (AD) is a chronic and recurrent inflammatory disease most commonly found during infancy and childhood. This disease is very complex and has a variety of clinical manifestations. Its management depends not only on the medication, but also on skin care and avoidance of trigger factors. This study aimed to obtain the profile of atopic dermatitis at the Dermatovenerology Clinic of Prof. Dr. R. D. Kandou Hospital Manado period January 2010 to December 2012. This was a retrospective study using medical records of new registered patients at the Dermatovenerology clinic. New cases were grouped according to sex, age, occupation, treatment, and coinfection diseases. The results showed that there were 461 (16.26%) new cases of AD out of 2,835 cases, consisted of 289 (62.69%) females and 172 (37.31%) males with a ratio of 1.7:1. The most frequent age group was >12 years old (58.35%); they were commonly students (43.38%). The most frequent treatment was a combination of oral antihistamin and topical corticosteroid (49.67%). No coinfection was recorded among 332 cases (72.02%). Conclusion: Most of the atopic dermatitis cases at the Dermatovenerology Clinic of Prof. Dr. R. D. Kandou Hospital Manado for the last 3 years were females, age group >12 years old, and as students. Combination of oral antihistamin and topical corticosteroid was the most common treatment. Almost all cases had no coinfection.Keywords: atopic dermatitis, profileAbstrak: Dermatitis atopik (DA) merupakan penyakit peradangan kulit kronis dan residif yang sering terjadi pada masa bayi dan kanak-kanak. Penyakit ini sangat kompleks dengan gambaran klinis bervariasi. Penatalaksanaannya tidak hanya bergantung pada pengobatan, namun juga perawatan kulit dan menghindari faktor pencetus. Penelitian ini bertujuan untuk mendapatkan profil DA di Poliklinik Kulit dan Kelamin RSUP Prof. Dr. R. D. Kandou Manado periode Januari 2010 - Desember 2012. Metode penelitian ini retrospektif dengan menggunakan catatan medik pasien baru di Poliklinik Kulit dan Kelamin tersebut. Kasus baru dikelompokkan menurut jenis kelamin, usia, pekerjaan, pengobatan, dan penyakit penyerta. Hasil penelitian memperlihatkan 461 (16,26%) kasus baru DA dari 2.835 kasus baru, terdiri dari 289 (62,69%) perempuan dan 172 (37,31%) laki-laki dengan rasio 1,7:1. Kelompok usia terbanyak ialah >12 tahun sebesar 269 (58,35%), terbanyak pada pelajar/mahasiswa yaitu 200 kasus (43,38%). Terapi tersering ialah kombinasi antihistamin oral dan kortikosteroid topikal sejumlah 229 kasus (49,67%). Sejumlah 332 (72,02%) kasus tidak disertai penyakit lain. Simpulan: Kasus dermatitis atopik di Poliklinik Kulit dan Kelamin RSUP Prof. Dr. R. D. Kandou Manado selama 3 tahun terakhir tersering pada perempuan, kelompok usia >12 tahun, dan pada pelajar/mahasiswa. Kombinasi anti histamin oral dan kortikosteroid topikal menjadi terapi yang tersering diberikan. Sebagian besar kasus tidak disertai penyakit lain.Kata kunci: dermatitis atopik, profil


2020 ◽  
Vol 2 ◽  
pp. 2-6
Author(s):  
Svitlana Ilchenko ◽  
Anastasiia Fialkovska ◽  
Oleksii Makoveychuk

Pulmonary emphysema belongs to the group of chronic obstructive pulmonary diseases, and inpediatric pulmonology is one of the complex diagnoses that require a careful differential diagnosis. Thearticle describes the possible causes of the formation and clinical manifestations of pulmonaryemphysema in children. We present a clinical case of bullous emphysema in a teenager. This case showsthat a detailed examination using such a modern diagnostic method as high-resolution computedtomography played a crucial role in establishing the patient's correct diagnosis. However, establishing thenature of this pathological process in the child was very difficult. Perhaps an earlier diagnosis couldprevent severe irreversible changes in a teenager's lungs would avoid developing the diffusebronchopulmonary process.


2020 ◽  
Vol 14 (4) ◽  
pp. 165-170
Author(s):  
A. M. Dadalova ◽  
E. A. Vasilenko ◽  
R. R. Samigullina ◽  
V. I. Mazurov

Psoriatic arthritis (PsA) is a chronic immune-mediated disease from a group of spondyloarthritis, which is characterized by damage to the musculoskeletal system with a wide range of different clinical manifestations and is usually associated with psoriasis. Activation of the interleukin (IL) 23/IL17 axis plays a key role in the pathogenesis of PsA and psoriasis. When non-steroidal and synthetic disease-modifying antirheumatic drugs are insufficiently effective, biological drugs are recommended. In recent years, there have been considerable advances in PsA treatment with tumor necrosis factor-α (IFN-α) inhibitors and IL-12/23 inhibitors. However, in some cases, this therapy fails to provide the desired effect and a search for new treatments for PsA seems to be an urgent task. The paper desctibes a clinical case demonstrating the efficacy of the IL17A inhibitor ixekizumab in a patient with high PsA activity and recurrent uveitis in both eyes. Ixekizumab therapy resulted in positive changes as the reduced severity of articular syndrome and psoriasis and normalization of acute phase parameters. Assessing the activity of PsA over time when using ixekizumab during a year showed an average decrease in ESR from 72 to 19 mm/h, in CRP from 162.1 to 0 mg/L, BSA from 51 to 0.25%, PASI from 43. 6 to 0, DAPSA from 78.2 to 2, ASDAS-SRB from 5.11 to 1.12, BASDAI from 4.85 to 1, BASFI from 5.3 to 0.7, BASMI from 5.0 to 2.6, MASES from 6 to 0, LEI from 2 to 0, SPARCC from 6 to 0, and NAPSI from 28 to 8. Thus, this clinical case is an example of successful treatment with the IL17 inhibitor ixekizumab for PsA with recurrent uveitis in the patient who has previously received three drugs from the TNFα group without any effect.


2021 ◽  
Vol 17 ◽  
Author(s):  
Anna A. Zayaeva ◽  
Lyudmila V. Sokolova ◽  
Denis V. Shaduro ◽  
Andrey V. Petrov ◽  
Shanmugaraj Kulanthaivel ◽  
...  

Background: Cryopyrin-Associated Periodic Syndrome (CAPS) is a variety of clinical variants of autoinflammatory diseases. The pathology is based on a mutation in the NLRP3 gene encoding the cryopyrin protein, which leads to the uncontrolled production of interleukin-1β. Particular attention should be paid to the rarity of this disease and the lack of clinical knowledge about it in therapeutic and rheumatological practice, which leads to an erroneous diagnosis and the appointment of ineffective treatment for a long time, leading to the progression of the disease and disability of the patient. Case Presentation: This article describes a clinical case of this disease. The first manifestations of the disease in a woman appeared from the age of 2 years, in the form of a rash and fever. Since school age, there have been signs of arthritis. By the age of 24, sensorineural hearing loss and pain in the spine were evident. The disease occurred under the clinical manifestations of spondyloarthritis. Its treatment with anti-inflammatory therapy did not give a stable result. Conclusion: From the analysis, we can conclude that patient M. from early childhood suffers from a severe Neonatal-onset Multisystem Inflammatory Disease of a genetic nature. For a long time, the patient was diagnosed with ankylosing spondylitis, and appropriate treatment was carried out without significant success. The correct diagnosis of CAPS was made only in 2018. This patient has conditions of both CAPS and AS together, which is a very rare association in rheumatological practice. The only treatment method that could stop the manifestations of the disease and prevent life-threatening kidney damage (amyloidosis) is the use of genetically engineered biological drugs, i.e., IL-1β inhibitors. The only drug of this group registered in Russia is canakinumab (Ilaris ®). From the moment of diagnosis to the present day, the patient is treated with the genetically engineered drug canakinumab (Ilaris ®) at a dose of 150 mg once every 8 weeks. 6 months after taking the drug, the patient went into complete clinical and laboratory remission.


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