A Rare Case of Digital Ulceration and Gangrene as an Initial Presentation of Systemic Lupus Erythematosus in a Child.

Systemic lupus erythematosus (SLE) is a complex autoimmune illness with a wide range of symptoms. Tissue-binding autoantibodies and intricate immune complexes are responsible for the initial damage to organs and cellular structures. Dermatological signs, particularly digital gangrene and ulcers, are uncommon in the context of systemic lupus erythematosus and often appear in the advanced stages of the disease. In this discussion, we present an unusual example of early-onset digital gangrene and ulcers in a young kid with systemic lupus erythematosus. It is unusual because SLE is mostly seen in adult patients, but here the patient is a seven-year-old boy who went to the doctor because he had urticarial rashes all over his body and face, skin desquamation, and sporadic fever episodes. The preliminary evaluation had difficulty separating this presentation from acute urticaria. However, further diagnostic testing and serological analysis confirmed the patient's SLE diagnosis. The distal regions of the fingers developed digital gangrene, ulceration, and vasculitis. Clinical and serological tests were used to confirm the diagnosis. Antinuclear antibodies (ANA), anti-ribonuclear protein (Anti-RNP) antibodies, anti-Smith (Anti-Sm) antibodies, and anti-Sjögren's syndrome-related antigen A (Anti-SS-A) antibodies were all positive in the patient. This example emphasizes the critical need to recognize the unusual and severe signs of SLE in medical practice.

Laurence-Moon-Bardet Biedl Syndrome With Cholelithiasis.

Laurence-Moon-Bardet Biedl syndrome (LMBBS) is a rare autosomal recessive genetic disorder that is most frequently found in children born from consanguineous marriages. The most prominent clinical characteristics of this syndrome include rod and cone dystrophy, nystagmus, central obesity, polydactyly, hypogonadism in males, renal anomalies, developmental delay, ataxia, speech difficulties, and poor coordination. In this report, we describe the case of a 31-year-old male who had the classical clinical features of LMBBS like developmental delay, retinitis pigmentosa, nystagmus, obesity, hypogonadism, and central obesity, presenting with abdominal pain associated with vomiting and tenderness in the right lower quadrant. The patient was diagnosed with cholelithiasis. This case report emphasizes the atypical complication of cholelithiasis due to the underlying syndrome and the need for further research in this area.

A Unique Case of Harlequin Ichthyosis in the Tertiary Health Care System in a Rural Area.

Harlequin ichthyosis (HI) is a severe and rare genetic anomaly that affects skin development and leads to the formation of thick, diamond-shaped plates of keratinized skin. The adenosine triphosphate binding cassette A 12 (ABCA12) gene, which is essential for the transportation of lipids required for the skin's barrier function, has mutations that result in this condition. The affected individuals exhibit distinct clinical features, including thickened skin, deep cracks, and fissures, which can result in significant physical and functional impairments. HI is usually apparent at birth, with affected infants presenting with tight and rigid skin that restricts movement and normal growth. The condition is associated with various complications, including difficulty breathing, feeding difficulties, and increased susceptibility to infections. Due to the impaired skin barrier, affected individuals are also prone to dehydration and temperature dysregulation. In this case report, we present a unique case of ichthyosis in a nine-month-old child. Despite advances in medical care, HI remains a challenging condition with a high mortality rate, particularly in the neonatal period. However, with early detection, appropriate interventions, and an improved understanding of the underlying molecular mechanisms, there is hope for enhanced management and improved quality of life for individuals living with HI.

Chanarin-Dorfman Syndrome (CDS): A Rare Lipid Metabolism Disorder.

Chanarin-Dorfman syndrome (CDS) is a rare medical condition that is inherited in an autosomal recessive pattern. In CDS, a comparative gene identification-58 gene mutation causes the accumulation of triglycerides in neutrophils, which can be observed as vacuoles on a peripheral smear. CDS patients present with a characteristic dermatological finding, ichthyosis, which is a non-bullous white scaling of the skin. Here, we describe a case report of a one-year-old boy who presented to the pediatric outpatient department (OPD) with chief complaints of peeling of the skin and ballooning of the abdomen since birth. Our patient had achieved all the developmental milestones pertaining to his age. Genetic testing was positive for heterozygous alleles in both parents.

Unveiling the Silent Ductus: A Classical Presentation of Patent Ductus Arteriosus in an Asymptomatic 23-Year-Old Male.

The patent ductus arteriosus (PDA) refers to the persistence of a connection between the descending aorta distal to the left subclavian artery and the pulmonary trunk beyond fetal life. Adult congenital heart disease is a rare condition, with asymptomatic cases being particularly uncommon. The following report presents the case of a young adult male, aged 23, who was discovered to possess a patent ductus arteriosus in an incidental manner. The patient presented with an acute chest complaint and was found to be asymptomatic upon examination at the hospital. Based on the preliminary medical information provided, a tentative diagnosis of a ventricular septal defect was established. However, a comprehensive echocardiographic examination revealed the presence of a patent ductus arteriosus (PDA).

Septic Cavernous Sinus Thrombosis in a Young Male Presenting With Pneumothorax Secondary to Septic Pulmonary Emboli: A Case Report.

Septic pulmonary embolism (SPE) is a rare complication that happens when infected thrombi from the original site of infection break off and travel to the pulmonary blood vessels, causing an infarction or an abscess. Cases were reported on SPE, with tricuspid or pulmonary valve endocarditis being the most common primary site, especially in intravenous drug abusers. There are, however, very few reports of SPE brought on by septic cavernous sinus thrombosis (CST). Here, we describe the case of an 18-year-old male who had a pustule on his left eyelid, after which he developed fever, spontaneous swelling of his left eye, followed by his right eye, along with bilateral proptosis and diplopia, and new-onset dyspnea. Auscultation revealed decreased breath sounds in the left lung fields. Magnetic resonance imaging (MRI) revealed cavernous sinus thrombosis. Blood cultures isolated Staphylococcus aureus species. High-resolution computed tomography (HRCT) revealed a left-sided pneumothorax with minimal pleural effusion and multiple nodules scattered among both lungs, suggesting septic pulmonary emboli. We report this case to convey how a minor lesion, that is, an eyelid pustule (stye), can get complicated and set off a spiral of events that takes an unexpected tangent, challenging physicians and necessitating a rigorous approach.

Correction: A Case of Megaspleen With Micrographism.

[This corrects the article DOI: 10.7759/cureus.29270.].

An Unusual Progression of Membranous Nephropathy.

Membranous glomerulopathy is one of the commonest causes of nephrotic syndrome and chronic renal insufficiency in adults. There has been documented evidence of a poorer prognosis with factors such as male gender, advanced age, increased blood pressure and persistent loss of proteins in the urine, but the overall prognosis of this condition is excellent. Herein, we present the case of a 20-year-old female patient who was diagnosed with primary membranous nephropathy. Normally, cases of primary membranous nephropathy have good outcomes with conservative management and immunosuppressants but our case had a worsening course and a delayed response even with immunosuppressive treatment. This case has been recorded due to its unusual presentation, unnatural course, and outcomes contrary to what is seen in routine clinical practice.

A Case of Megaspleen With Micrographism.

Wilson disease is an inherited disorder of copper metabolism with an autosomal recessive inheritance pattern (hepatolenticular degeneration). In this case, a 13-year-old child was seen with overall exhaustion, sporadic abdominal discomfort, and shrinking handwriting during the previous 12 months. On clinical examination there was hepatosplenomegaly. Routine blood work revealed anemia, leukopenia, thrombocytopenia, elevated total and indirect bilirubin, alkaline phosphatase and transaminitis. Serum ceruloplasmin is decreased, urine copper excretion is increased. Slit lamp examination revealed Kayser-Fleischer rings in both eyes. Ultrasonography (USG) abdomen confirmed hepatosplenomegaly, coarse echotexture of the liver. MRI Brain revealed the bilateral and diffuse and symmetric hyperintensity of caudate and lentiform nuclei, which are consistent with the neuro-parenchymal changes of Wilson's disease. We report this case due to its rare incidence and atypical presentation and to highlight the importance of clinical examination in reaching the diagnosis.