Diagnostic Complex Research Articles

A Case of Thymoma Masquerading as Hiatus Hernia, Pericardial Effusion: A Diagnostic Dilemma

Thymoma is a rare neoplasm of the thymus gland, and as an adult, it accounts for 30% of anterior mediastinal tumors. The peak incidence is between 55 and 65 years old. Thymoma is a cancer that is extremely uncommon, accounting for just 0.2-1.5% of all malignancies, with an estimated incidence of between 0.13 and 0.32 per 100,000 people each year. We discuss a rare instance of a 58-year-old female patient who was admitted after complaining of multiple joint pain, gastroesophageal reflux disease (GERD), and generalized weakness. She was initially diagnosed with hiatus hernia and pericardial effusion based on imaging studies. However, her symptoms persisted despite treatment, and further evaluation revealed the presence of a thymoma. It was hard to make a diagnosis because the patient had a thymoma, a hiatus hernia, and pericardial effusion all at the same time. The initial diagnosis was complicated by the fact that the patient had unusual and refractory symptoms, which means they needed a thorough evaluation and follow-up. The case highlights the diagnostic complexity associated with thymoma, especially when coexisting with other conditions such as hiatus hernia and pericardial effusion. Despite its rarity, thymoma necessitates considerations in patients presenting with nonspecific symptoms, emphasizing the importance of thorough evaluation and follow-up. This underscores the need for a comprehensive diagnostic approach to ensure timely and accurate management, particularly in cases with an atypical and refractory presentation. In the described case, nurses' initial assessment skills are crucial for identifying the need for critical care intervention. Their role extends beyond the perioperative phase, encompassing patient education on procedures and potential outcomes.

Navigating diagnostic complexity: A case of giant cell tumour of tendon sheath of thumb in a patient with prior hypopharyngeal Carcinoma

Navigating diagnostic complexity: A case of giant cell tumour of tendon sheath of thumb in a patient with prior hypopharyngeal Carcinoma

Heterosexual precocious puberty due to virilizing adrenocortical adenoma

ABSTRACT This case details a 5-year-old girl with a 3-month history of heterosexual precocious puberty, presenting with clitoral enlargement and pubic hair development. In our patient, the clinical and hormonal characteristics were suggestive of adrenocortical carcinoma. However, radiological and histopathological findings indicated adrenocortical adenoma. This case highlights the diagnostic complexities that exist in pediatric adrenocortical tumors.

Is the presence of upper tract transitional cell carcinoma in a calyceal diverticulum a risk factor for early metastasis? A case report and review of the literature

Upper tract transitional cell carcinoma poses diagnostic challenges due to its prevalence and diverse clinical presentations. This case report describes the incidental discovery of high-grade transitional cell carcinoma during the management of a 48-year-old male with ischemic heart disease and an asymptomatic right renal stone. During flexible ureteroscopy for stone removal, papillary lesions were identified within a calyceal diverticulum and confirmed as high-grade transitional cell carcinoma. The unique anatomy of the calyceal diverticulum, characterized by its restricted wall thickness, may predispose the tumor to early metastasis. Additionally, there is a concern about potential iatrogenic dissemination of tumor cells to the bladder during the ureteroscopic procedure. This case highlights the diagnostic complexities associated with upper tract transitional cell carcinoma in rare anatomical locations and emphasizes the need for careful consideration of both procedural factors and anatomical features to manage the risk of metastasis and tumor dissemination effectively.

ПРОГНОЗИРОВАНИЕ КАЧЕСТВА РЕЗУЛЬТАТОВ ИССЛЕДОВАНИЯ ЛАБОРАТОРИИ НА ОСНОВЕ АНАЛИЗА СТАБИЛЬНОСТИ МЕТРОЛОГИЧЕСКИХ ХАРАКТЕРИСТИК МЕДИЦИНСКОГО РЕНТГЕНОВСКОГО ОБОРУДОВАНИЯ

The article discusses the testing methodology for medical X-ray equipment. Based on the testing data of the X-ray diagnostic complex KRD - “OKO”, control charts were constructed that evaluate the stability of the equipment according to the indicator “absorbed dose of X-ray radiation”. The possibility of using the “control charts” tool to assess the process stability of medical equipment is considered.

The Role of Transcranial-Color-Doppler in the Management of Basilar Artery Stenosis: Case Series and Systematic Review of Literature

Managing vertebrobasilar (VB) stroke, particularly basilar artery occlusion (BAO), presents challenges due to diverse clinical presentations and intricate diagnostics, risking delays in acute-phase reperfusion therapies. The diagnostic complexities of VB stroke prompt questions about whether presentation tempo influences outcomes. For non-urgent cases of basilar artery stenosis (BAS) lacking guidelines, clinical management becomes case-dependent. Current options include aggressive medical therapy (AMT) and percutaneous transluminal angioplasty and/or stenting (PTAS). However, the choice of PTAS remains debated, with recent trials observing higher-than-expected recurrence rates, particularly in intracranial stenosis. Understanding hemodynamic status is crucial in predicting stroke risk, especially in atherosclerotic VB disease. Recent studies highlighted the role of distal flow status in predicting stroke risk, emphasizing the importance of hemodynamic assessment beyond anatomic measures. Neurosonology, especially transcranial color-coded duplex sonography (TCCS), emerges as a valuable tool for assessing hemodynamics. Despite TCCS being operator-dependent and technically challenging for BAS evaluation, it effectively detects significant hemodynamic changes, providing real-time information on collateral flow. This review explores the potential role of TCCS in managing BA hemodynamic failure in VB stroke, with particular regard to the selection of BAS patients who may benefit from PTAS.

Развитие регуляторных функций у детей 5–9 лет

This study was aimed at developing norms and analyzing the dynamics of development for the main executive functions components in older preschoolers and younger schoolchildren. In this study we relied on the model proposed by A. Miyake and his colleagues, which identifies three main components of executive functions: working memory, inhibition and cognitive flexibility. To assess all executive functions components in this study a set of methods previously tested for children of older preschool age was used, most of which were based on subtests of the NEPSY-II diagnostic complex. The study involved 7289 children ages 5 to 9 (M=78, SD=9.9 months), attending older and preparatory groups of kindergarten, as well as first and second grades of school from different regions of Russia, of which 46.7% are boys. The analysis results norms were developed from eight age groups during six-month increments, separating the boys and girls. It was found that in preschoolers, significant differences in the executive functions were observed between children with a difference of six months, and in primary school age - with a difference of a year. In addition, the analysis showed significant differences in all executive functions components in girls and boys of both preschool and primary school ages. Thus, the study made it possible to trace the dynamics of all executive functions components development in Russian children ages 5 to 9. The data obtained will be useful to both scientists and practitioners in the field of child development. It is important to emphasize that the study conducted is a cross-sectional, and its results must be supplemented with longitudinal data on the development of executive functions components.

Личностно-профессиональное развитие педагога как фактор реализации потенциала неуспешных одаренных школьников

Background. The study of personal characteristics and cognitive needs of the intellectually gifted students with underachievement in school is relevant for the scientific substantiation of the personal and professional development programs and training for the teachers to interact with such pupils. Objective. Theoretical and methodological analysis of new scientific data on the cognitive and personal development of intellectually gifted schoolchildren underachieving in education as the psychological and pedagogical basis for developing teacher training for interaction with such students; empirical study of motivational and personal characteristics of intellectually gifted schoolchildren with different academic achievement. Study Participants. The empirical study involved 460 intellectually gifted students in grades 5–10 in Moscow schools, 74–80 people in each cohort. Methods. Theoretical and analytical review of new scientific publications on the peculiarities of the cognitive and personal development of intellectually gifted schoolchildren underachieving in education as well as their psychological and pedagogical support by teachers. The empirical study implemented the diagnostics complex including tests of cognitive abilities, questionnaires of achievement motivation, academic and general self-esteem (adapted by the author: Shcheblanova, 2006), parametric statistical methods for the data processing. Results. The analysis of the school teachers' ideas about self-efficacy in teaching gifted students demonstrated their insufficient professional readiness to work with such pupils. Recent scientific publications review highlighted the important aspects of the modern understanding on differentiated approach to the identification and education of intellectually gifted children taking into consideration the new data on the variability of giftedness manifestations and trajectories of its development in the programs for the personal and professional development of teachers. Conclusions. The study provides theoretically and empirically substantiated basis for developing teacher professional and personal training for effective interaction with intellectually gifted students, and namely, — understanding the peculiarities of not only cognitive, but also motivational and personal development of students with high abilities and varying academic achievement as well as the need of psychological and pedagogical support for intellectually gifted underachievers.

Navigating the diagnostic and therapeutic complexities of autoimmune encephalitis

Characterized by immune-mediated inflammation of the brain, autoimmune encephalitis (AE) encompasses a diverse array of disorders, each presenting with unique as well as overlapping clinical manifestations, and underlying autoantibodies targeting neuronal and glial surface antigens. The clinical spectrum can range from subtle cognitive and behavioural changes to severe seizures, movement disorders, and altered consciousness. However, what truly sets AE apart from other encephalitides is its potential reversibilitywhen identified early and managed appropriately. The identification of N-methyl-D-aspartate receptor (NMDAR) antibody encephalitis in 2007 heralded the discovery of a spectrum of immunotherapy-responsive AE. However, misdiagnosis remains prevalent despite diagnostic algorithms, resulting in unnecessary immunotherapies and delayed treatment of the correct diagnosis. AE diagnosis requires a judicious blend of diagnostic algorithms, antibody testing, and clinical acumen. Testing for antibodies against neuronal surface antigens, preferably in cerebrospinal fluid, is essential, but should be contextual to clinical relevance.Treatment guidelines are largely based on retrospective studies due to a dearth of randomized and prospective data. However, early immunotherapy initiation has proven to be pivotal for optimal outcomes. The therapeutic landscape in AE continues to evolve with the introduction of novel targeted immunotherapies.This review highlights the complexities, and proposes a systematic approach, to the diagnosis and treatment of AE.

Sporotrichosis: Spectrum and Complications

Sporotrichosis, a fungal infection caused by the Sporothrix genus, predominantly presents as cutaneous disease following inoculation through minor skin trauma. Environmental exposure, often linked to soil, plants, or infected animals, is a common source of acquisition. The spectrum of the disease ranges from localized skin lesions to severe disseminated forms, with manifestations including osteoarticular involvement and rare occurrences of meningitis. Prompt diagnosis, typically achieved through culture, is vital for effective management. Treatment, primarily employing antifungal agents like amphotericin B and itraconazole, is essential, as spontaneous resolution is rare. The prognosis varies, with localized infections responding well to treatment, while extracutaneous forms, especially in immunocompromised individuals, may lead to complications and poorer outcomes. Meningitis poses a significant challenge due to limited therapeutic options and diagnostic complexities.

Communicative activity in teaching professionally oriented English: a methodological aspect

New conditions determine new requirements to the quality of specialists’ training for professional activity. It is necessary to emphasize the important role of communicative activity development in professional-personal direction. The purpose of this article ― to systematize the results obtained in the framework of pedagogical research conducted on the basis of Aktobe Regional University named after K. Zhubanov, with the 3 rd year students of the specialty “5B010200 ― “Pedagogy and Methods of Primary Education”” with the Kazakh language of training. Scientific importance is designated by means of allocation of theoretical and conceptual device, practical importance consists in the chosen and tested complex of diagnostics, and techniques on communicative activity. The methodology of research is based on activity (A. N. Leontiev, V. A. Slastenin, etc.) and acmeological (N. V. Kuzmina, etc.) approaches, review-analytical and diagnostic research methods. The main results of the study were the systematization of the identified components of communicative activity, methods and techniques for teaching foreign language to students of non-linguistic specialties. The value is the cultural enrichment of the student on the basis of competently selected teaching material. The practical value of the results of the work is based on methodological recommendations to university faculty working in this area.

Ценностный профиль осужденных женщин с разным уровнем правового сознания

<p style="text-align: justify;">The article presents the results of the empirical study of the value profile of convicted women demonstrating different levels of legal consciousness. The study was conducted in 2020-2022 on the basis of correctional institutions located in Siberian Federal District. The sample of the study was made up of 1029 convicted women aged 20 to 35 years serving their sentences for the first time. The diagnostic complex included the following techniques: “The Test of Legal and Civil Consciousness” (L.A. Yasyukova), “Differential Scale of Actual Values” (N.A. Samoylik), “The Test of Life Orientations” (D.A. Leontiev). It is empirically proved that the situational value profile of women with legal nihilism is characterized by humanity, optimism, understanding of labor prestige, as well as by a low level of justice and predominance of temporary perspectives presentment in the minds of convicts. The value profile of convicted women with a partial manifestation of legal consciousness is characterized by the semantic fullness of life based on the values of intellectual development, self-development and sociability and is defined as variable. The structure of a stable value profile of convicts with a formed legal consciousness includes responsibility, mannerliness, self-control and conscientiousness. These results can be used in conducting individual counseling and correctional work aimed at forming the value sphere and legal consciousness of women serving sentences in places of deprivation of liberty.</p>

Unraveling the spectrum of inflammatory myofibroblastic tumors in the lung: A comprehensive case series highlighting endobronchial, pleural, and lung parenchymal tumors

ObjectivesDiverse cases of inflammatory myofibroblastic tumors (IMTs) in the lung (pleural, endobronchial, and parenchymal) are presented while discussing the (preoperative) diagnostic challenges and treatment modalities. Other objectives include emphasizing the significance of gene rearrangements and highlighting the multidisciplinary approach in addressing IMTs. MethodsFour cases of IMT in the lung are presented, including a young adolescent girl with an ETV6-neurotrophic tyrosine receptor kinase 3 (NTRK3) gene rearrangement, a 5-year-old boy with challenging preoperative diagnosis, and 2 middle-aged women with respectively pleural and endobronchial tumors with one peribronchial relapse. ResultsThe cases demonstrate the diverse clinical presentations and diagnostic complexities associated with IMT in the lung. Surgical resection remains the primary treatment modality, with complete resection leading to a cure in most patients. Unfortunately, aggressive relapse can occur, as in our last case of an endobronchial tumor. Frozen section may confirm the presence of malignant cells perioperatively and impact further treatment. The presence of gene rearrangements, such as ETV6-NTRK3, suggests potential therapeutic implications. ConclusionsEarly detection and complete surgical removal of IMT are crucial for effective treatment. Identifying gene rearrangements such as ETV6-NTRK3 holds promise for targeted therapies. Diagnostic challenges, including the controversy of biopsies and preoperative evaluations, underscore the importance of a multidisciplinary approach. Anatomopathological recognition of IMT stays demanding. Close surveillance is necessary due to potential relapse, whereas frozen section perioperatively can help further treatment. This case series emphasizes the diagnostic challenges and therapeutic considerations for IMT in the lung.

Cognitive and emotional development of first-graders in the Sakha Republic (Yakutia)

The relevance of the problem of adaptation of first-graders to school has become increasingly obvious due to the increase in neuropsychiatric diseases of children, as well as violations of academic performance, behavior and interpersonal relationships among children of primary school age. The practice shows that untimely recognition of these problems and the lack of special corrective programs have lead not only to chronic retardation, but also to secondary disorders of the child’s psychosocial development, and to various forms of deviant behavior. Purpose of the study: to analyze the cognitive and emotional development of first-graders. Research objectives: determining the research program; diagnostics of cognitive abilities and emotional sphere of children; analysis of research results. As part of the study, such methods as subtests of diagnostic complexes aimed at assessing regulatory functions were used: the Memory for Designs technique, the Sentence Repetition technique, the Sorting cards by variable attribute technique Dimensional Change Card Sorting, Inhibition technique, and the tests aimed at studying the ability to understand emotions [1]. The levels of cognitive and emotional development of first-graders, participants in a longitudinal study of the project “Growing with Yakutia” were studied, information about their academic performance and social success was collected.

Experimental Studies of a Universal Mathematical Model of Leakage Currents and Ground Currents Distribution on the Elements of HVPTL

In Kazakhstan, the main power transmission line with a line voltage of 500 kV, geographically runs through the whole of Republic from north to south. The high-voltage power line is of strategic importance. The failure of one support leads to a halt in the technological process of transporting electricity to entire regions of the country. In order to increase reliability and reduce operating costs, various modifications of diagnostics and monitoring systems for overhead power lines are being widely introduced in the CIS countries. Currently, the introduction of a complex of diagnostics of structural elements of the 500 kV HVPL has become particularly relevant, firstly, the cost of damage in accidents has increased significantly, and secondly, due to the long service life, the reliability of the power system has decreased. For the successful implementation of the diagnostic complex, an accurate representation of the processes occurring during the operation of the supports is necessary. For this purpose, a universal model of leakage currents and spreading currents along the elements of the overhead line supports was developed.

Intravascular Lymphoma-Associated Stroke: A Systematic Review of Case Studies.

Intravascular lymphoma (IVL) is an aggressive systemic large B-cell lymphoma that is a rare cause of stroke. The clinical characteristics of stroke associated with IVL remain underexplored, contributing to diagnostic complexities and a high mortality rate. This study endeavors to elucidate the salient clinical and investigative features of stroke linked to this condition. A systematic review was performed using the PubMed database from the incident to August 2023 including search categories for IVL and stroke. All studies, excluding review articles, were included in this study. There were 58 cases with a confirmed diagnosis of IVL associated with stroke, with a mean age of 62.9 ± 9.6 years (female 50%). Classical lateralizing stroke symptoms were noted in only 69% of cases. Other clinical syndromes included altered sensorium (31%), rapidly progressive cognitive impairment (23%), seizures (22%), and gait disturbances (19%). Common hematological abnormalities included elevated lactate dehydrogenase (LDH, 97%), erythrocyte sedimentation rate (ESR, 79%), C-reactive protein (CRP, 61%), interleukin-2, microglobulins, and cerebrospinal fluid (CSF) protein. CSF flow cytometry was not diagnostic, and cytology was mostly negative. The dynamic pattern for DWI/T2 lesions was predominant and primarily located in the subcortical regions. Diffuse background slowing (64%) was a major finding in the electroencephalogram. Seventy-one percent of cases died (n=45) mostly due to delayed diagnosis. Only 31% were treated with first-line R-CHOP (rituximab, cyclophosphamide, doxorubicin hydrochloride, vincristine, prednisone) chemotherapy, among whom 25% died. This study suggests that IVL-associated strokes carry a high mortality rate, largely due to challenges in timely diagnosis and therapy. Unlike classical stroke syndrome, key indicators to aid in early diagnosis include a clinical syndrome of multiple non-lateralizing neurological symptoms, dynamic MRI DWI/T2-lesions primarily located in subcortical regions, elevated serum LDH, ESR, CRP, interleukins, microglobulin, CSF protein, and CSF polymerase chain reaction analysis, apart from tissue examination. Larger studies should be performed to establish diagnostic and predictive scores.

COMPARISON OF DIAGNOSTIC COMPLEXITY AND IMAGING DECISIONS IN YOUNGER, MIDDLE AGE, AND OLDER ADULTS

Abstract A primary reason for visit of abdominal pain in the emergency department (ED) defines a syndromic presentation that can carry morbidity and mortality comparable to a myocardial infarction. Whether imaging decisions in the ED adequately account for this risk, and whether this risk is mediated in part by greater diagnostic complexity remains unknown. In a prospective cohort of 1,169 patient visits to a US community ED, a surgeon codified each visit according to history, examination, laboratory testing, imaging (the acuity of CT findings), diagnosis, and disposition. Chi square tests (two-tailed, alpha=.05) tested for differences between age groups (younger: 18-40, middle: 40-60, older adult: 60+). We found that 42.5% of younger adults received a CT, compared to 66.7% and 70.0% of middle age and older adults (P< 0.001). 20.5% of CT findings were acute in younger, 34.0% in middle, and 39.6% in older adults (P< 0.001). The top 3 acute diagnoses accounted for 75.5% of younger, 62.9% of middle, and 62.7% of older adults, with Herfindahl Indices of 0.25 for younger, 0.16 for middle, and 0.15 for older adults. ED clinicians tested modestly more in older adults, but still potentially over-test younger adults and under-test older adults as judged by test positivity. Older adults had greater diagnostic complexity than younger adults. Dissemination of these findings may improve appropriateness of testing.

Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients

IntroductionHereditary ataxias (HAs) encompass a diverse and genetically intricate group of rare neurodegenerative disorders, presenting diagnostic challenges. Whole-exome sequencing (WES) has significantly improved diagnostic success. This study aimed to elucidate genetic causes of cerebellar ataxia within a diverse Brazilian cohort. MethodsBiological samples were collected from individuals with sporadic or familial cerebellar ataxia, spanning various ages and phenotypes, excluding common SCAs and Friedreich ataxia. RFC1 biallelic AAGGG repeat expansion was screened in all patients. For AAGGG-negative cases, WES targeting 441 ataxia-related genes was performed, followed by ExpansionHunter analysis for repeat expansions, including the recently described GGC-ZFHX3. Variant classification adhered to ClinGen guidelines, yielding definitive or probable diagnoses. ResultsThe study involved 76 diverse Brazilian families. 16 % received definitive diagnoses, and another 16 % received probable ones. RFC1-related ataxia was predominant, with two definitive cases, followed by KIF1A (one definitive and one probable) and SYNE-1 (two probable). Early-onset cases exhibited higher diagnostic rates. ExpansionHunter improved diagnosis by 4 %.We did not detected GGC-ZFHX3 repeat expansion in this cohort. ConclusionThis study highlights diagnostic complexities in cerebellar ataxia, even with advanced genetic methods. RFC1, KIF1A, and SYNE1 emerged as prevalent mutations. ZFHX3 repeat expansion seem to be rare in Brazilian population. Early-onset cases showed higher diagnostic success. WES coupled with ExpansionHunter holds promise as a primary diagnostic tool, emphasizing the need for broader NGS accessibility in Brazil.

MECHANISMS OF THROMBOTIC READINESS STATE FORMATION IN CARDIOLOGICAL PATIENTS WITH ACTIVE ONCOLOGICAL PROCESS

Today cardiovascular diseases and oncopathology are leading causes in the structure of mortality worldwide. The complexity of diagnostics of haemocoagulation complications in this comorbid pathology remains an urgent problem at present. The aim of our study was to investigate the mechanisms of thrombotic readiness state formation using the thrombodynamics test on the example of patients with cardiovascular diseases (CHD, arterial hypertension) and aggravated oncoanamnesis depending on the activity of oncoprocess. The study was conducted in 100 patients aged 37 – 86 years: 60 patients with active oncoprocess (group 1) and 40 patients with oncoprocess in remission (group 2). Clinical, anamnestic and laboratory data were studied using a statistical analysis. The main attention was paid to the thrombodynamics test indicators (both velocity and structural). It was found that the most informative indicators of the haemostasis system state estimation in patients with cardiovascular pathology and aggravated oncoanamnesis depending on the oncoprocess activity are thrombodynamic indices both velocity and structural. Almost half of cardiological patients with an aggravated oncoanamnesis had a state of thrombotic readiness irrespective of the activity of the oncological process. These indices were higher in active oncopathology than in oncopathology in remission. At the same time no differences in the data of standard coagulogram in both groups could be revealed. Application of thrombodynamics test in cardiological patients with oncoanamnesis allows to reveal the states of thrombotic readiness and to establish the degree of influence of oncoprocess activity on the formation of this state, which demonstrates fundamentally new aspects of diagnostics of procoagulant states in patients of this profile.

Photogallery. Genodermatoses. Part II

Genodermatoses are a group of hereditary diseases primarily affecting the skin. To date, there are more than two hundred genetically determined dermatoses representing about 35% of all genetic diseases and 10% of all skin diseases. Genodermatoses can be caused by mutations in a single gene or the interaction of several genes and environmental factors. Hereditary diseases are characterized by a wide variety of phenotypic manifestations and the diagnostic complexity which represents a serious problem in modern dermatology.
 We present a gallery of hereditary dermatoses.
 Unna-Tost disease is a genodermatosis inherited in an autosomal dominant manner and characterized by diffuse excessive keratinization of the skin on the palms and soles, manifesting in the first to second year of life.
 Buschke-Fischer-Brauer punctate palmoplantar keratoderma is a late-developing focal dermatosis in which painful hyperkeratotic papules can occur when traumatized.
 Ehlers-Danlos syndrome is a condition demonstrating skin hyperextensibility and a number of typical symptoms of the skeletal and cardiovascular systems.
 Progeria manifests as premature skin aging, affecting the endocrine, skeletal, cardiovascular, and other systems of the body, as well as increasing the risk of developing malignant neoplasms of internal organs and skin.
 Congenital ichthyosiform erythroderma of Brocq is a severe chronic skin disease with autosomal recessive inheritance, which follows the pattern of lamellar ichthyosis but to a milder degree.
 X-linked ichthyosis, a hereditary "darkening" condition, occurs only in males and is characterized by impaired keratinization and the presence of gray-black scales on the skin.
 Lamellar ichthyosis is an autosomal recessive dermatosis characterized by generalized skin involvement.
 Netherton syndrome is a rare condition characterized by a combination of ichthyosis with structural anomalies of the hair shaft and atopy.