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This case report details the ocular complications of Hutchinson-Gilford Progeria syndrome in a 20-year-old Bangladeshi patient, highlighting symptoms like dry eyes, Meibomian gland dysfunction, and cataracts.

This article analyzes the potential for insights from monogenic disorders to inform the understanding and treatment of common polygenic diseases, though complete predictability based on genotype remains unrealistic.

This study reports two siblings with severe combined immunodeficiency due to a mutation in the FOXN1 gene, characterized by T-cell immunodeficiency, alopecia totalis, and nail dystrophy.

This case study describes a 22-year-old woman with hirsutism who experienced symptom reversal through addressing nonclassical adrenal hyperplasia and polycystic ovaries alongside laser hair removal.

This review discusses the complex pathophysiology of polycystic ovary syndrome and reports no clinical trial results, emphasizing the need for better understanding to improve treatment options.

This report describes the clinical and histopathological features of lipoid proteinosis in a brother and sister with lid lesions, highlighting the importance of recognizing such lesions for diagnosis.

This review discusses the emerging evidence for low-dose oral minoxidil in treating various types of alopecia, without providing new clinical results.

This case report describes a patient with systemic lupus erythematosus who developed both alopecia areata and lichen planopilaris despite immunosuppressive treatment, suggesting a shared immunopathogenesis between these disorders.

This case report describes a man with metastatic thymoma and diffuse pleural dissemination mimicking malignant mesothelioma, who also had alopecia areata without the presence of myasthenia gravis.

This case report identifies collagenous gastritis as the cause of chronic gastrointestinal symptoms in a 27-year-old male, characterized by severe chronic inactive gastritis and a distinctive subepithelial collagen band.

This case report observed that multiple sclerosis treatments were associated with worsening alopecia in a woman, highlighting the importance of informing patients about this potential side effect.

This case study highlights the importance of considering systemic lupus erythematosus in young patients presenting with atypical symptoms like periorbital erythema and pancytopenia, as early diagnosis and treatment can lead to remission.

This case report details the investigation and management of a 3-year-old girl with precocious pseudopuberty due to a Sertoli-Leydig cell tumor, highlighting the importance of early recognition and accurate diagnosis for effective treatment and prognosis.

This case report highlights a female patient with familial partial lipodystrophy who showed significant improvement in liver stiffness after starting leptin replacement therapy.

This case study reports clinical improvement and complete ulcer resolution in a 29-year-old woman with ANA-negative SLE treated for segmental hyalinizing vasculitis and valvular heart disease.

This case report documents a 31-year-old woman with bullous SLE who showed improvement with high-dose parenteral steroids and dapsone, with ongoing follow-up due to potential kidney involvement.

This case study reports that a 52-year-old woman with Sheehan syndrome improved after receiving hormone replacement therapy, highlighting its importance for patients with similar symptoms.

This case report discusses dental considerations and management strategies for a 7-year-old girl with Ichthyosis Vulgaris; it presents no new clinical results and suggests early preventive therapies.

This study describes three additional cases of encephalocraniocutaneous lipomatosis, emphasizing the importance of examining patients with ocular and ipsilateral skin lesions for this rare neurocutaneous disorder.

This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.

This case report identified two new SLC39A4 mutations in twin patients with acrodermatitis enteropathica, suggesting that different mutations in this gene may lead to varying clinical manifestations of the disorder.

In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.

This case report describes an 8-year-old child with penile tourniquet syndrome due to a constricting thread, which led to partial distal penile amputation and required surgical intervention.

This report describes the first known case of diffuse idiopathic skeletal hyperostosis in a woman under 40, associated with both metabolic syndrome and polycystic ovarian syndrome.

In this case report, the authors documented a fatal instance of Stevens-Johnson syndrome in an elderly woman potentially triggered by doxycycline and flucloxacillin, emphasizing the importance of recognizing such rare but severe drug reactions in older patients.

In this case study, a 19-year-old woman with Henoch-Schönlein purpura, potentially triggered by hepatitis B vaccination, experienced improved symptoms after correcting low vitamin D levels and undergoing tonsillectomy, demonstrating these interventions may benefit similar patients.

This case report describes a 39-year-old female with cutis verticis gyrata and cicatricial alopecia, emphasizing the need for further understanding of the potential genetic associations and underlying mechanisms.

This case study reported the first diagnosis of IFAP syndrome in Brazil with molecular investigation, identifying a rare MBTPS2 gene variant and expanding the known mutational spectrum associated with the condition.