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Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.

This report discusses a potentially underdiagnosed form of multisystem Langerhans cell histiocytosis in infants, demonstrating the use of thymic sonography for staging, highlighting a case where thymic and cutaneous involvement was confirmed, and suggesting thymic ultrasound may aid in better diagnosis and management of LCH.

This case report highlights the need for a multidisciplinary approach in managing complex cardio-obstetric patients, as demonstrated by a pregnant woman with a large pericardial effusion successfully treated with a surgical pericardial window.

This case report describes the first documented occurrence of a free-floating left atrial thrombus in a dog, highlighting the lack of specific therapeutic strategies for treating intracardiac thrombi in dogs.

This study found that prenatal exposure to androgens caused long-lasting heart remodeling and left ventricular hypertrophy in female mice offspring, suggesting potential cardiac risks for daughters of mothers with PCOS.

This case study illustrated that a patient's severe autonomic neuropathy due to amyloidosis prevented the expected development of heart failure symptoms despite significant cardiac abnormalities.

This review discusses 46,XY disorders of sex development caused by defects in androgen production and highlights the need for long-term care from experienced multidisciplinary teams, but it reports no new clinical findings.

This report describes a case of Goltz syndrome in a 12-year-old Saudi girl, highlighting the variability in symptoms and the importance of documenting such rare syndromes.

This case report highlights a new manifestation of lipodystrophy in HIV patients: excess fat deposition in the anterior neck, which may have implications for treatment strategies.

This case study suggests that obstructive sleep apnea syndrome may be hereditary in patients with connective tissue disorders due to a variant in the COL1A2 gene.

In this report, two adult patients with Tatton-Brown-Rahman syndrome exhibited new cardiac features, such as atrial fibrillation and ventricular and atrial dilatation, highlighting the importance of cardiovascular follow-up in adults with this condition.

The abstract contains only graphic design specifications and reports no new research findings.

This case study suggests that atrichia with papular lesions associated with common variable immunodeficiency may follow an autosomal-dominant inheritance pattern, differing from previous reports of autosomal recessive inheritance.

KLHL24-mutant stem cells help understand skin and heart disease.

This paper presents a case study of a 21-year-old male with thyroid hemiagenesis, where the left thyroid lobe and isthmus are absent, and discusses the anomaly's potential clinical consequences based on existing literature.

This report suggests that patients with primary spontaneous pneumothorax should be evaluated for FLCN mutations, as they may indicate Birt-Hogg-Dube syndrome and associated cancer risks.

This case report highlights a rare instance of esophageal carcinoma in a patient with Cronkhite-Canada syndrome, emphasizing the importance of endoscopic surveillance for malignant gastrointestinal tumors in these patients.

This report describes a rare case of ectopic adrenocorticotropic hormone syndrome caused by a pheochromocytoma that unusually co-expresses both ACTH and corticotropin-releasing hormone.

This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.

This report details a case of acrodermatitis enteropathica in a 4-month-old infant, noting the disorder's rarity and familial transmission, and includes a literature review with no new clinical results.

Pediatric patients with dystrophic epidermolysis bullosa face more hospital admissions, procedures, and complications than others.

This case study describes a 12-year-old boy with an unruptured epidermal inclusion cyst on his cheek, highlighting the role of dermatoscopy in diagnosing and differentiating cyst types for treatment.

Scurvy, caused by vitamin C deficiency, can occur in people with restrictive diets and can be diagnosed by twisted hair shafts.

In this study involving patients with coronary artery disease, a preauricular crease was present in 77% of cases, suggesting it may be worth investigating for association with the condition.

In this study, researchers found that pregnant mice exposed to excessive androgen led to thinner ventricular walls and cardiac hypertrophy in offspring, suggesting that prenatal androgen exposure adversely affects cardiac health through reduced cardiomyocyte proliferation.

This study found that patients with myotonic dystrophy types 1 and 2 often exhibit skin abnormalities, which correlate with genotype severity and serum vitamin D levels, and suggest premature aging.

In this study, researchers observed that testicular 17β-hydroxysteroid dehydrogenase deficiency in an inbred Arab population in Israel leads to genital ambiguity at birth and progressive virilization after puberty.

This study describes the otolaryngologic manifestations and multidisciplinary management strategies for 12 patients with ectodermal dysplasia, emphasizing the importance of early recognition for effective treatment.

This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.

Masculinization in affected individuals occurs gradually after puberty due to hormone changes.