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This study reports a novel missense mutation in the HR gene in a 68-year-old Hungarian woman with alopecia universalis and limb deformities, suggesting a need for further research on its role in these conditions.

Finasteride use during early pregnancy may cause limb deformities in babies.

This case report describes a patient with a rare combination of imperfect osteogenesis and Escobar syndrome, highlighting the genetic complexity and clinical manifestations of these conditions.

This case study reported that growth hormone therapy dramatically improved rickets symptoms and growth in three children with vitamin-D dependent rickets type 2 who had not responded to standard treatments.

In this report, a unique female presentation of IFAP syndrome is described, featuring musculoskeletal contractures but no photophobia, highlighting the importance of early detection and multidisciplinary care to improve outcomes and prevent disability.

This study found that forelimb amputation in raccoon dogs with severe limb injuries resulted in satisfactory three-limb function, enabling them to run faster and maintain good body condition post-operation.

This review discusses the post-burn deformities seen after healing from acute burns and emphasizes the need for integrated, multidisciplinary management to prevent these sequelae; it reports no new clinical results.

This case report examines a 10-year-old girl with Satoyoshi Syndrome, highlighting the challenges in diagnosing and managing this rare autoimmune disorder.

This article reviews the potential of platelet-rich plasma therapy in managing diabetic foot ulcers but reports no new clinical findings, highlighting the need for further controlled trials to evaluate its effectiveness.

This article reviews the role of R-spondins and their receptors in bone development and metabolism, highlighting their potential modulatory effects and clinical implications for treating bone loss diseases, but reports no new clinical results.

This case report from Nepal describes a five-year-old boy with Hutchinson Gilford Progeria Syndrome experiencing ocular manifestations, highlighting the role of ocular senescence in this genetic disorder.

This article explores how societal views on "freaks" have shifted from congenital anomalies to cosmetic surgery-induced appearances, with the authors suggesting this may reflect changing beauty norms and the commodification of uniqueness.

This study diagnosed a group of six girls with various ectodermal abnormalities, identifying cranio-skeletal malformations consistent with focal dermal hypoplasia (Goltz syndrome), and found heterozygous mutations in the PORCN gene in two children.

In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.

This article reviews how skin manifestations can aid in diagnosing various systemic diseases, focusing primarily on their association with rheumatologic conditions while also addressing vascular, granulomatous, and other disease impacts, aiming to provide dermatologists with practical diagnostic insights.

In this study, researchers explored ear pinna development in two rodent species and identified that BMP5 plays a crucial role in chondroblast proliferation but not in their initial specification, with implications for understanding tissue differentiation and potential impacts on reconstructive surgery.

In this case report, the authors described how a 27-year-old male developed scarring and penile shortening after a previous lengthening procedure, which was successfully repaired using a pedicled superficial circumflex iliac artery perforator flap combined with a novel hybrid technique.

Tattooing guidelines focus on safety, hygiene, and following rules.

Burn reconstruction improves with new techniques, materials, and tissue engineering.

In this case report, treatment with anifrolumab led to significant improvement in symptoms for a 52-year-old woman with refractory systemic lupus erythematosus, including resolution of chronic lupus headaches resistant to previous therapies.

This study reviewed how Anifrolumab, though often used in real-world settings for SLE patients with neurological symptoms, showed varying effectiveness and required cautious monitoring for adverse effects like thrombocytopenia and cerebrovascular events.

This case report describes a physician's journey with systemic lupus erythematosus, illustrating the disease's impact on their professional life and treatment experiences, ultimately informing their holistic patient care approach.

In this case report, two female patients with refractory systemic lupus erythematosus showed significant improvement after treatment with the JAK inhibitor upadacitinib, indicating potential as a promising option for difficult cases, although further research is needed to confirm its broader safety and efficacy.

This case report highlights the challenge of distinguishing between neuropsychiatric lupus and rituximab-associated progressive multifocal leukoencephalopathy in systemic lupus erythematosus patients, emphasizing the importance of early recognition and careful management.

In this case report, researchers described a 48-year-old man with systemic lupus erythematosus who developed a fungus ball (aspergilloma) within a tuberculosis cavity, a complication rarely reported in such patients, emphasizing the role of CT scans in diagnosis and the potential need for surgical intervention.

This case report highlights the rare occurrence of overlapping syndromes including SLE, RA, and AAV in a patient with discoid lupus erythematosus, noting the persistent role of prior viral infection remains unclear.

In this case report, researchers detailed the clinical management and positive outcome of a 62-year-old woman with catastrophic antiphospholipid syndrome associated with systemic lupus erythematosus, highlighting the potential effectiveness of Eculizumab in achieving disease remission and maintaining stability over 18 months.

This case report highlights the importance of trans-esophageal echocardiography in distinguishing Libman-Sacks endocarditis from infective endocarditis in systemic lupus erythematosus patients, guiding appropriate treatment for associated cerebrovascular disease.

This report describes two cases where female patients with chronic granulomatous disease developed manifestations of systemic lupus erythematosus, highlighting a rare association that may influence clinical evaluation and treatment planning.

In this case report, two patients with polyautoimmunity and difficult-to-treat lupus erythematosus experienced significant symptom improvement after adding anifrolumab to their regimen, suggesting its potential as an effective add-on therapy for refractory cutaneous symptoms in autoimmune conditions characterized by elevated interferon alpha activity.