Congenital Research Articles

Structural Rhinoplasty as an Effective Surgical Approach for Frontonasal Dysplasia.

Frontonasal dysplasia (FND), a rare congenital craniofacial disorder, primarily influences the development of midline craniofacial structures. A notable manifestation of this condition is nasal hypoplasia. This report details the treatment of a 19-year-old male patient diagnosed with FND accompanied by a severe case of nasal hypoplasia. The authors used structural rhinoplasty to achieve total nasal reconstruction. Albeit with some minor sequelae, the outcome of this surgery was markedly positive, enhancing both the cosmetic appearance and functional capacity of the nose. This case underscores the effectiveness of structural rhinoplasty as a feasible therapeutic approach for individuals suffering from FND and its associated nasal hypoplasia.

Risk factors for delayed extubation after pediatric perineal anaplasty in patients less than 1 year of age: a retrospective study

BackgroundAnorectal malformation is a common congenital problem occurring in 1 in 5,000 births and has a spectrum of anatomical presentations, requiring individualized surgical treatments for normal growth. Delayed extubation or reintubation may result in a longer intensive care unit (ICU) stay and hospital stay, increased mortality, prolonged duration of mechanical ventilation, increased tracheostomy rate, and higher hospital costs. Extensive studies have focused on the role of risk factors in early extubation during major infant surgery such as Cardiac surgery, neurosurgery, and liver surgery. However, no study has mentioned the influencing factors of delayed extubation in neonates and infants undergoing angioplasty surgery.Materials and MethodsWe performed a retrospective study of neonates and infants who underwent anorectal malformation surgery between June 2018 and June 2022. The principal goal of this study was to observe the incidence of delayed extubation in pediatric anorectal malformation surgery. The secondary goals were to identify the factors associated with delayed extubation in these infants.ResultsWe collected data describing 123 patients who had anorectal malformations from 2019 to 2022. It shows that 74(60.2%) in the normal intubation group and 49(39.8%) in the longer extubation. In the final model, anesthesia methods were independently associated with delayed extubation (P < 0.05).ConclusionWe found that the anesthesia method was independently associated with early extubation in neonates and infants who accepted pediatric anorectal malformation surgery.

CERVICAL DIASTEMATOMYELIA: A CASE PRESENTATION AND SYSTEMATIC REVIEW

Diastematomyelia is a rare congenital disorder characterized by the separation of the spinal cord by an osseocartilaginous or fibrous septum. While diastematomyelia has been reported to be more common in the thoracic and lumbar regions, the true incidence of cervical diastematomyelia is currently unknown. In this study, we conducted the most comprehensive systematic review to date of all other case reports of diastematomyelia to better characterize the incidence of cervical diastematomyelia, and provide comprehensive statistics on the clinical characteristics of diastematomyelia generally. Ninety-one articles were included in our study, comprised of 252 males (27.9%) and 651 females (72.0%) (and one patient with unspecified gender). In 507 cases, the vertebral level of the diastematomyelia was described, and we recorded those levels as either cervical (n=8, 1.6%), thoracic (n=220, 43.4%), lumbar (n=277, 54.6%), or sacral (n=2, 0.4%). In 719 cases, the type of diastematomyelia was specified as either Type I (n=482, 67.0%) or Type II (n=237, 33.0%). Our study found that diastematomyelia has been reported in the cervical region in only 1.6% of cases, and we provide comprehensive data that this disorder occurs in females to males with an approximately 2.6:1 ratio, and Type I vs. Type II diastematomyelia in an estimated 2:1 ratio.

Imaging of Benign Biliary Tract Disease

AbstractThis review article discusses the most common benign biliary disorders and the various radiological findings on multiple modalities. A broad spectrum of diseases including various congenital disorders, infective and parasitic etiologies, immunological pathologies such as primary sclerosing cholangitis, and immunoglobulin G4-related sclerosing cholangitis are discussed along with obstructive diseases and ischemic cholangitis.The article emphasized the imaging differential diagnosis of the above lesions as well as clinical correlates those that are most relevant to radiologists. The article briefly touched upon management and intervention where relevant.

Two cases of pituitary stalk interruption syndrome: importance of early detection and management

Introduction and Importance: Pituitary Stalk Interruption Syndrome PSIS is a rare congenital condition affecting the pituitary gland and its stalk, leading to hormonal imbalances. PSIS can present with a wide range of symptoms, including delayed puberty and short stature. Case presentation: This paper discusses two cases of Pituitary Stalk Interruption Syndrome (PSIS) in patients with a history of growth hormone deficiency. The first case is of a 26-year-old male presenting with fatigue and loss of appetite, while the second case is of a 14-year-old male presenting with delayed puberty. Blood tests revealed hormonal imbalances, and subsequent MRI confirmed the diagnosis of PSIS. Hormonal supplements were prescribed to manage the condition, and follow-up appointments were scheduled to monitor progress. Clinical Discussion: PSIS can present with a wide range of symptoms, and can be diagnosed at different ages. Early diagnosis and management of PSIS are crucial to prevent long-term complications such as short stature, impaired cognitive function, and infertility. The use of hormonal supplements, as seen in both cases, is essential to manage the hormonal imbalances associated with PSIS. Testosterone replacement therapy is used to treat hypogonadism, while thyroxine and hydrocortisone are used to manage hypothyroidism and adrenal insufficiency, respectively. Conclusion: Early diagnosis and management of PSIS through hormonal supplements are crucial to prevent long-term complications. It is essential to monitor patients’ progress through follow-up appointments to ensure optimal management of the condition.

Uhl's Anomaly in Adulthood.

Uhl's anomaly is a rare congenital syndrome characterized by the absence of right ventricular myocardium. The widely accepted pathological mechanism is intrauterine myocardial apoptosis. Uhl's syndrome carries a poor prognosis. In rare situations, patients with Uhl's anomaly reach adulthood. We will present a case of a 29-year-old patient with Uhl's syndrome treated at our center, highlighting the diagnostic, surgical, and postoperative challenges in management.

Continuous epileptiform discharges are associated with worse neurodevelopmental findings in a congenital Zika syndrome prospective cohort

PurposeThis study aimed to identify continuous epileptiform discharges (CEDs) on electroencephalograms (EEG) and to determine their clinical significance in children with congenital Zika syndrome (CZS). MethodsThis prospective cohort study included 75 children diagnosed with CZS born from March 2015 and followed up until September 2018 (age up to 36 months). EEG was performed to detect CEDs up to 24 months old. Data on obstetric, demographic, and clinical signs; cranial computed tomography (CT); ophthalmology examination; anti-seizure medication; growth; and motor development were collected. Fisher's exact test was used to verify the associations between categorical variables, and the T-test test was used to compare the mean z-scores of anthropometric measurements between the groups with and without CED. ResultsCEDs were identified in 41 (54.67%) children. The mean age of CEDs identification was 12.24 ± 6.86 months. Bilateral CEDs were shown in 62.89% of EEGs. CEDs were associated with severe congenital microcephaly, defined by z-score >3 standard deviation of head circumference (HC) below the mean for sex and age (p = 0.025), and worse outcomes, including first seizure before 6 months (p = 0.004), drug-resistant epilepsy (p < 0.001), chorioretinal scarring or mottling (p = 0.002), and severe CT findings (p = 0.002). The CED group had lower mean z-scores of HC up to 24 months of age. ConclusionThis is the first description of the prevalence and significance of CEDs that also remains during wakefulness in patients with CZS. New investigations may suggest that it is more appropriate to classify the EEG not as a CED, but as a periodic pattern. Anyway, CEDs may be a marker of neurological severity in children with CSZ.

Case Report: A comprehensive rehabilitation protocol in a post-operative case of ASD closure along with PAPVC

An array of congenital cardiac disorders known as partial anomalous pulmonary venous connections (PAPVC) occur when pulmonary veins, abnormally drain into the right atrium. This can happen directly into the right atrium or via draining into systemic veins. A 10 year old female patient had chief complaints of difficulty in breathing and frequent fever hence she visited rural hospital where 2D echo was done which reviled PAPVC associated with 16 mm ASD (Atrial Septal Defect). She underwent ASD closure along with pulmonary valvotomy as a part of surgical management after which a well-planned cardiac rehabilitation has been ingrained through several breathing methods such as breathing exercises, respiratory muscle strength and home exercise program, helping the patient to carry out her activities of daily living. The Visual Analog Scale (VAS), Respiratory Muscle Strength using MicroRPM device, 6 Minute Walk Distance (MWD), Borg Scale and Fatigue Severity Scale (FSS). In this present instance, carefully thought-out physical therapy rehabilitation has been shown to be successful in enhancing functional capacity, respiratory muscle strength, optimizing functional capacity, and lowering fatigue.

Varicella in the 21st Century.

Varicella is a highly contagious disease caused by the varicella-zoster virus and has a wide range of clinical presentations. Varicella can cause mild disease in infants born to infected persons who are immunized as a result of previous vaccination or previous clinical or subclinical infection. However, varicella can also lead to severe life-threatening disease in infants, particularly for those born to nonimmunized persons. In this review, we will summarize the natural history of varicella-zoster infection in pregnant persons, infants with congenital varicella syndrome, and infants with postnatal varicella infection. We will also provide guidance about isolation recommendations and chemoprophylaxis for exposed hospitalized infants. Finally, we will describe risk factors for developing disseminated disease and review the approach to treatment of infected infants.

Audiologic Outcomes After Vestibulotomy in Patients With Congenital Absence of the Oval Window.

To examine the clinical features and surgical outcomes in patients with congenital absence of the oval window (CAOW), and to investigate the potential factors that affect audiologic results. A retrospective chart review. A tertiary academic center. A total of 17 ears among 16 patients were confirmed to have CAOW. Among them, 13 ears underwent vestibulotomy for hearing reconstruction. Clinical parameters associated with the hearing outcomes were analyzed. A mean air-bone gap (ABG) after 6-month and long-term follow-up was compared with preoperative measurements. Intraoperative findings showed that anomalies of the malleus or incus were observed in 11 ears (64.7%), stapes anomalies were present in all ears (100%), and facial nerve anomalies were present in 10 ears (58.8%). Because of unfavorable facial nerve anomalies, hearing reconstruction was aborted in four cases (23.5%). In the hearing reconstruction group, the mean ABG at 6 months postoperation was significantly reduced after compared with the preoperative value (44.0 ± 8.4 dB versus 58.8 ± 9.1 dB, p = 0.006). After dividing ears into a success subgroup (ABG ≤ 30 dB, seven ears) and non-success subgroup (ABG > 30 dB, six ears), the use of a drill during vestibulotomy was significantly related to a poor hearing outcome (100% versus 16.7%, p = 0.015). The long-term follow-up result (mean, 60 mo) revealed no deterioration compared with the 6-month postoperative result. Five ears (29.4%) underwent revision surgery, and three of them showed ABG improvements. No serious complications were reported. Vestibulotomy is an effective and safe option for hearing restoration in patients with CAOW, particularly when the use of a drill is not required. The long-term audiologic outcome is also reliable.

Renal dysplasia in Leonberger dogs - An emerging recessive congenital disorder?

Renal dysplasia in Leonberger dogs - An emerging recessive congenital disorder?

Imaging Assessment of Nontraumatic Pathologic Conditions at the Craniovertebral Junction: A Comprehensive Review.

Nontraumatic pathologic conditions of the craniovertebral junction encompass a range of conditions affecting the complex anatomy of this region without direct physical injury. These conditions include congenital syndromes that predispose individuals to ligamentous laxity, potentially leading to instability. Additionally, rare but noteworthy cases such as Grisel syndrome, a cause of pediatric torticollis, may arise without a traumatic trigger. Inflammatory diseases, including rheumatoid arthritis, ankylosing spondylitis, and crystal deposition, can lead to cervical instability and spinal cord compression. Infections at the upper cervical spine are dominated by tuberculosis, typically transmitted through hematologic or lymphatic routes with characteristic imaging findings. On the other hand, purulent bacterial infections in this area are rare. Furthermore, although tumors involving the structures of the craniovertebral junction are infrequent, they can lead to significant complications, albeit less frequently through cord compression and more commonly via pathologic fractures or subluxation. The craniocervical junction is a complex anatomic region comprising ligaments, bones, joints, and muscles that support the head's weight and enable its wide range of motion. Accurate recognition and understanding of the complex anatomy and the various nontraumatic pathologic conditions at the craniovertebral junction are pivotal for initiating timely and appropriate treatment strategies. ©RSNA, 2024 Test Your Knowledge questions for this article are available in the supplemental material.

The role of developmental factors in hypoplasia of deciduous teeth and treatment specifics in pediatric dental practice

Relevance. Congenital and systemic diseases can lead to developmental errors in the enamel organ, resulting in anomalies such as enamel hypoplasia. The high prevalence of these defects illustrates the vulnerability of teeth to changes in the intrauterine and postnatal environments. Enamel hypoplasia contributes to the development of caries and tooth wear by making enamel thinner, more retentive to dental plaque, and less resistant to acid degradation compared to normal enamel. Surfaces of the affected hard tissues are smooth and exhibit a symmetric distribution pattern. The occurrence of enamel hypoplasia in children is a significant factor in the development of caries; thus, they require comprehensive treatment and ongoing preventive care by a pediatric dentist.Purpose. To analyze the impact of factors contributing to the development of deciduous teeth hypoplasia in children, on the frequency of this condition and the specifics of its treatment by a pediatric dentist.Materials and Methods. The study involved the examination and treatment of children aged 4-12 at the Dental and Implantology Department of Kazan (Volga Region) Federal University over a 12-month period. Out of 972 children, 67 were diagnosed with systemic enamel hypoplasia. A questionnaire was developed for statistical research, and data were processed using Statistica 7.0 software Statistica 7.0 (StatSoft, США).Results. The survey revealed chronic diseases in 16.42% of mothers. During pregnancy, 68.6% of the mothers visited a dentist once, and 31.3% visited two to three times. Most mothers experienced early pregnancy toxemia—67% in the first half and 58.2% in the second half of the pregnancy. Additionally, 50.7% suffered from acute respiratory viral infections and influenza, and 25.4% had gastrointestinal diseases. Feeding practices involved breastfeeding in 68.7% of cases and artificial feeding in 31.3% (up to 3 months – 16.4%, up to 1 year – 64.1%, up to 2 years – 19.4%). Examination of the oral cavity in 67 children with systemic hypoplasia revealed a spotted form in 79.1% of cases and a purely destructive form in 20.9% of cases. Contemporary conservative dentistry emphasizes minimally invasive approaches to the treatment of such dental defects.Conclusion. The study of deciduous tooth hypoplasia in children highlighted the importance of the health status of the expectant mother and timely sanitation of the oral cavity. Particular attention should be paid to maternal infectious diseases, specifically influenza and ARVI. The findings underscore the need for preventive measures against temporary tooth hypoplasia from the onset of pregnancy planning to enhance the dental well-being of children.

Clinical and Laboratory Profile, Management and Outcome of Pediatric SARS-CoV-2 Infection Admitted at the Philippine General Hospital

Background. The Philippines has recorded over 470,000 COVID-19 cases in children, with over 1,500 deathsduring the same period. Although a Philippine online pediatric COVID-19 registry exists, this only relies on passive surveillance. Objectives. This study determined the clinical and laboratory profile, risk factors for severe COVID-19, and mortality, management, and outcome of pediatric SARS-CoV-2 patients admitted at the Philippine General Hospital (PGH) from April 2020 to June 2022 to fill in knowledge gaps on the epidemiology of COVID-19 infection in children. Methods. This was a retrospective cohort study of pediatric COVID-19 cases admitted at the PGH, a designatedCOVID referral center during the study period. Demographic and clinical profile, risk factors, comorbidities, laboratory and radiologic findings, management, and outcomes across different disease severity states were gathered by chart review and the data were analyzed using STATA 17. Results. There were 448 pediatric patients admitted and diagnosed with COVID-19 during the study period. Most patients belonged to the 1-5-year age group (25.9%), had no known exposure to a COVID-19 case (65.4%), were mild cases (37.3%%), and did not receive any dose of the COVID-19 vaccine (96.7%). The most common presenting symptoms across all disease categories were fever (44.4%), cough (28.6%), and shortness of breath (26.6%). Multisystem inflammatory syndrome in children (MIS-C) presented with fever (100%) and rash (53.9%). The risk factors for severe disease were the presence of a congenital anomaly lung disease, and elevated procalcitonin. Most patients with MIS-C were previously well with no comorbidities. Laboratory findings which were markedly elevated among severe and critical cases were ESR, CRP, D-dimer, LDH, and IL-6. Ferritin, procalcitonin (PCT) and IL-6 were elevated only in severe to critical COVID-19 cases and remained within normal for the other disease categories. As to treatment, asymptomatic, mild, and moderate cases were given supportive medications (zinc, vitamin D, and vitamin C), while investigational drugs particularly corticosteroids, IVIG, and remdesivir, were used in severe cases. Antibiotics were given to 71.7% of patients at the outset.As to the outcomes, 89% recovered, while 8.9% died. The case fatality rate from COVID-19 infection was at2.2%. Conclusion. Admitted pediatric COVID-19 cases are generally mild but admission is due to underlying illnessor comorbidities. Those with severe to critical cases have underlying comorbidities and had either progression or complications due to COVID disease. D-dimer, LDH, IL-6, ferritin and procalcitonin were elevated among severe and critical cases which can be utilized as inflammatory markers.

Surgical Management of Psudosyndactyly in Recessive Dystrophic Epidermolysis Bullosa: About Three Case Reports

Recessive dystrophic epidermolysis bullosa (RDEB) is defined as a congenital disorder resulting from mutations in the COL7A1 gene, often resulting in hand contractures and pseudosyndactyly. While multiple treatments exist to improve hand malformations, there are currently still no radical cures for this disease because of its high recurrence rate. This paper reports our experience of management of hand deformities in three cases of Recessive dystrophic epidermolysis bullosa patients with surgical management and postoperative skin dressings. Hand function was significantly improved after the complete release of pseudosyndactyly and the achievement of satisfying digital web spaces. Patients were followed up for one year and showed good results after functional hand training activities.

Identification of a novel de novo mutation in SOX4 for syndromic tooth agenesis.

Coffin-Siris Syndrome (CSS) is a congenital disorder characterized by delayed growth, dysmorphic facial features, hypoplastic nails and phalanges of the fifth digit, and dental abnormalities. Tooth agenesis has been reported in CSS patients, but the mechanisms regulating this syndromic tooth agenesis remain largely unknown. This study aims to identify the pathogenic mutation of CSS presenting tooth genesis and explore potential regulatory mechanisms. We utilized whole-exome sequencing to identify variants in a CSS patient, followed by Sanger validation. In silico analysis including conservation analysis, pathogenicity predictions, and 3D structural assessments were carried out. Additionally, single-cell RNA sequencing and fluorescence in situ hybridization (FISH) were applied to explore the spatio-temporal expression of Sox4 expression during murine tooth development. Weighted Gene Co-expression Network Analysis (WGCNA) was employed to examine the functional role of SOX4. A novel de novo SOX4 missense mutation (c.1255C > G, p.Leu419Val) was identified in a Chinese CSS patient exhibiting tooth agenesis. Single-cell RNA sequencing and FISH further verified high expression of Sox4 during murine tooth development, and WGCNA confirmed its central role in tooth development pathways. Enriched functions included cell-substrate junctions, focal adhesion, and RNA splicing. Our findings link a novel SOX4 mutation to syndromic tooth agenesis in CSS. This is the first report of SOX4 missense mutation causing syndromic tooth agenesis. This study not only enhances our understanding of the pathogenic mutation for syndromic tooth agenesis but also provides genetic diagnosis and potential therapeutic insights for syndromic tooth agenesis.

Long-term outcomes in non-CAH 46,XX DSD

Differences/disorders of sex development (DSD) comprise a large group of rare congenital conditions. 46,XX DSD, excluding congenital adrenal hyperplasia (CAH), represent only a small number of these diseases. Due to the rarity of non-CAH 46,XX DSD, data on this sex chromosomal aberration were confined to case reports or case series with small numbers of patients. As the literature is still relatively sparse, medical data on the long-term effects of these pathologies remain scarce. In this review, we aim to provide an overview of current data on the long-term follow-up of patients with non-CAH 46,XX DSD, by covering the following topics: quality of life, gender identity, fertility and sexuality, global health, bone and cardiometabolic effects, cancer risk, and mortality. As non-CAH 46,XX DSD is a very rare condition, we have no accurate data on adult QoL assessment for these patients. Various factors may contribute to a legitimate questioning about their gender identity, which may differ from their sex assigned at birth. A significant proportion of gender dysphoria has been reported in various series of 46,XX DSD patients. However, it is difficult to give an accurate prevalence of gender dysphoria and gender reassignment in non-CAH 46,XX DSD because of the rarity of the data. Whatever the aetiology of non-CAH 46,XX DSD, fertility seems to be impaired. On the other hand, sexuality appears preserved in 46,XX men, whereas it is impaired in women with MRKH syndrome before treatment. Although there is still a paucity of data on general health, bone and cardiometabolic effects, and mortality, it would appear that the 46,XX DSD condition is less severely affected than other DSD conditions. Further structured and continued multi-center follow-up is needed to provide more information on the long-term outcome of this very rare non-CAH 46,XX DSD condition.

Exploring genetic variants in congenital monosaccharide-disaccharide metabolism: Carrier ratiosandphenotypic insights.

Adverse food reactions, often underestimated, encompass congenital monosaccharide-disaccharide metabolism disorders, yielding diverse outcomes such as abdominal pain, diarrhea, bleeding disorders, and even death. This study retrospectively scrutinized genetic variants linked to these disorders in a cohort subjected to whole-exome sequence analysis (WES), determining carrier frequencies and genotype-phenotype correlations. Data from 484 patients, were retrospectively analyzed using a gene panel (ALDOB, FBP1, GALE, GALK1, GALM, GALT, LCT, SLC2A2, SLC5A1, SI) for congenital monosaccharide-disaccharide metabolism disorders. WES was performed on patients using the xGen Exome Research Panel v2 kit, utilizing Next Generation Sequence Analysis (NGS). The study encompassed pathogenic, likely pathogenic, and variant of uncertain significance (VUS) variants. Among 484 patients (244 female, 240 male), 17.35% carried 99 variants (67 distinct) in the analyzed genes. Pathogenic/likely pathogenic allele frequency stood at 0.013, while VUS allele frequency was 0.088. Notably, 44% (37/84) of patients harboring mutations manifested at least one relevant phenotype. Carriage frequencies ranged from 1:25 (SI gene) to 1:968 (GALE gene), with the estimated disease frequency spanning from 1:2500 to 1:3748000. Our study underscores clinical manifestations in heterozygous carriers of recessive genetic disorders, addressing gaps in carrier frequencies and phenotypic effects for congenital monosaccharide-disaccharide metabolism disorders. This knowledge can improve these conditions'diagnosis and management, potentially preventing adverse food reactions and their associated complications.

The Evolutionary Route of in vitro Human Spermatogenesis: What is the Next Destination?

Malfunction in spermatogenesis due to genetic diseases, trauma, congenital disorders or gonadotoxic treatments results in infertility in approximately 7% of males. The behavior of spermatogonial stem cells (SSCs) within three-dimensional, multifactorial, and dynamic microenvironment implicates a niche that serves as a repository for fertility, since can serve as a source of mature and functional male germ cells. Current protocols enable reprogramming of mature somatic cells into induced pluripotent stem cells (iPSCs) and their limited differentiation to SSCs within the range of 0-5%. However, the resulting human iPSC-derived haploid spermatogenic germ cell yield in terms of number and functionality is currently insufficient for transfer to infertility clinic as a therapeutic tool. In this article, we reviewed the evolution of experimental culture platforms and introduced a novel iPSCs-based approach for in vitro spermatogenesis based on a niche perspective bearing cellular, chemical, and physical factors that provide the complex arrangement of testicular seminiferous tubules embedded within a vascularized stroma. We believe that bioengineered organoids supported by smart bio-printed tubules and microfluidic organ-on-a-chip systems offer efficient, precise, personalized platforms for autologous pluripotent stem cell sources to undergo the spermatogenetic cycle, presenting a promising tool for infertile male patients with complete testicular aplasia.

Dermato-Radiological Evaluation of Congenital Limb Overgrowth Vascular Syndromes

Abstract International Society for the Study of Vascular Anomalies classification defines Congenital Limb Overgrowth Vascular Syndromes (CLOS) as a subset of vascular syndromes with other abnormalities that present with unilateral limb overgrowth. It includes Klippel–Trenaunay Syndrome, Parkes–Weber Syndrome, CLOVES (Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Spinal/Skeletal Anomalies/Scoliosis) Syndrome, Proteus Syndrome, PTEN Hamartomatous Syndrome, and Fibroadipose Vascular Anomaly. Due to their rare and complex nature, a multidisciplinary approach to diagnosis and treatment is required. A thorough clinical and radiological workup can go miles in reflecting on the patient’s outcome. Here we report five cases of CLOS with their detailed dermato-radiological profiles.