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This case report on a 17-year-old with Vogt-Koyanagi-Harada syndrome found that while steroid treatments improved vision during uveitis episodes, recurring ocular issues led to significant long-term visual impairment.

This case report describes a patient with eosinophilia-myalgia syndrome related to L-tryptophan use, detailing the specific symptoms and laboratory abnormalities observed.

This study reports two new cases of Gomez-Lopez-Hernandez syndrome and suggests that trigeminal anesthesia and/or partial scalp alopecia may be key criteria for diagnosis.

Careful management of chronic hyponatremia is crucial to prevent severe neurological issues.

This report describes a case of polymyositis that was resistant to steroids and immunosuppressants but showed improvement with immunoadsorption therapy.

This case report describes a girl diagnosed with ADULT syndrome, highlighting its rarity, varied presentation, and the importance of early diagnosis to prevent unnecessary stress and medical expenses.

In this case report, a 17-year-old Korean female with Vogt–Koyanagi–Harada syndrome showed positive improvement in her symptoms following systemic glucocorticosteroid pulse therapy, highlighting the rarity and importance of early disease detection.

This case report highlights a 31-year-old male with Adult Onset Still Disease, whose symptoms, including high fever, responded only to pulse-therapy with Methylprednisolone after failing to improve with usual treatments.

This case report from Tishreen Hospital describes the rare presentation of lupus erythematosus tumidus and autoimmune thyroid dysfunction as initial manifestations of systemic lupus erythematosus, highlighting the importance of early diagnosis for better outcomes.

This case report describes the first confirmed instance of trichodysplasia spinulosa in a child with Down syndrome and leukemia, linking it to the TS-associated polyomavirus.

This study reports the first case of diverse medium-sized visceral arterial aneurysms in a patient with functionally impaired A20, potentially linked to HA20, and its atypical presentation in East Asia.

This case report describes the first known instance of a patient with myotonic dystrophy presenting with type I diabetes, Hashimoto’s thyroiditis, and follicular variant papillary thyroid cancer, suggesting a potential link between these conditions.

This article reports a case of trichothiodystrophy in a 7-year-old girl with sulfur deficiency in her hair, characterized by sparse, slow-growing hair and distinctive tiger tail banding under microscopy.

This report describes a 19-year-old male with 49,XXXXY syndrome receiving testosterone replacement therapy, which led to improvements in reproductive development, metabolism, and social interaction after a year of treatment.

This report describes two young women with severe psoriasis and alopecia universalis, highlighting the possible but unstudied association between alopecia areata and metabolic syndrome.

This case report describes a 3-year-old male with X-linked ichthyosis and associated neurologic abnormalities, identifying an unusual cortical development malformation and suggesting that abnormal hair banding may assist diagnosis.

This article reports on a patient case of Cronkhite-Canada syndrome, detailing symptoms and diagnostic findings, and reviews the syndrome's characteristics without presenting new clinical data.

This case study highlights the unique occurrence of Papillon-Lefévre syndrome in two siblings from a consanguineous family, emphasizing the potential role of genetic factors in the disease's development.

This case study highlights the importance of an integrated diagnostic and treatment approach for children with rare genetic disorders, as demonstrated in a 10-year-old girl with CNOT3 syndrome, characterized by symptoms like mental retardation, gastrointestinal issues, and unique facial features.

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.

In this case report, a 40-year-old woman with systemic lupus erythematosus developed Type B Insulin Resistance Syndrome, characterized by severe hyperglycemia despite high insulin doses, requiring immunosuppressive therapy to manage refractory symptoms.

This case report identified UVB photosensitivity and testicular failure as previously unreported components of low-sulfur hair syndrome in a 16-year-old male.

This study concludes that dietary L-serine supplementation shows promise as a long-term therapy for hereditary sensory and autonomic neuropathy type 1, reducing neurotoxic 1-deoxysphingolipid levels and improving symptoms in severe cases.

This case report describes a 1-month-old male infant with Netherton syndrome, characterized by severe hypernatremia, skin and scalp issues, highlighting the syndrome's complications, including growth retardation and infection risks in early life.

In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.

This case report details a 4-year-old girl with arginosuccinic-aciduria, showing neurological symptoms and weakened hair, but the mechanisms behind these issues remain uncertain.

In this study, researchers examined two new cases of trichothiodystrophy and observed that the condition is linked to decreased synthesis of high-sulfur matrix proteins in hair.

This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.

In this study, patients with testicular feminization syndrome showed limited anabolic responsiveness to dihydrotestosterone, potentially due to reduced affinity of nuclear receptor sites for androgenic steroids rather than defective testosterone conversion.

This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.