Neurological, cardiac, musculoskeletal, and renal manifestations of scleroderma along with insights into its genetics, pathophysiology, diagnostic, and therapeutic updates.

Background: Scleroderma, also referred to as systemic sclerosis, is a multifaceted autoimmune condition characterized by abnormal fibrosis and impaired vascular function. Pathologically, it encompasses the persistent presence of inflammation, abnormal collagen buildup, and restructuring of blood vessels in various organs, resulting in a wide range of clinical symptoms. This review incorporates the most recent scientific literature on scleroderma, with a particular emphasis on its pathophysiology, clinical manifestations, diagnostic approaches, and treatment options. Methodology: A comprehensive investigation was carried out on numerous databases, such as PubMed, MEDLINE, Scopus, Web of Science, and Google Scholar, to collect pertinent studies covering diverse facets of scleroderma research. Results: Scleroderma presents with a range of systemic manifestations, such as interstitial lung disease, gastrointestinal dysmotility, Raynaud's phenomenon, pulmonary arterial hypertension, renal complications, neurological symptoms, and cardiac abnormalities. Serological markers, such as antinuclear antibodies, anti-centromere antibodies, and anti-topoisomerase antibodies, are important for classifying diseases and predicting their outcomes. Discussion: The precise identification of scleroderma is crucial for promptly and correctly implementing effective treatment plans. Treatment approaches aim to improve symptoms, reduce complications, and slow down the progression of the disease. An integrated approach that combines pharmacological agents, including immunosuppressants, endothelin receptor antagonists, and prostanoids, with nonpharmacological interventions such as physical and occupational therapy is essential for maximizing patient care. Conclusion: Through the clarification of existing gaps in knowledge and identification of emerging trends, our goal is to improve the accuracy of diagnosis, enhance the effectiveness of therapeutic interventions, and ultimately enhance the overall quality of life for individuals suffering from scleroderma. Ongoing cooperation and creative research are necessary to advance the field and achieve improved patient outcomes and new therapeutic discoveries.

Griscelli Syndrome With Hemophagocytic Lymphohistiocytosis: A Rare Case Report.

Griscelli syndrome type 2 (GS2) is a rare, autosomal recessive condition caused by a mutation of the RAB27A gene that causes primary immunodeficiency and pigmentary dilution of skin and hair. It is a rare occurrence, with only 160 cases reported all over the world. It commonly progresses to hemophagocytic lymphohistiocytosis (HLH) due to immunodeficiency. We herein represent the case of a seven-month-old male child, the firstborn of a third-degree consanguineous marriage, who presented with recurrent viral infections and silvery grey hair. A definitive diagnosis of GS 2 was made in accordance with the pathognomonic appearance of hair on microscopic examination and whole genome sequencing, which revealed a homozygous missense mutation in exon 3 of the RAB27A gene. This article is being reported to highlight the rare incidence of this disease, its overlapping clinical features with malnutrition, the challenges faced in diagnosis, and the treatment modalities for it.