Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This case study describes a 9-year-old boy with monilethrix and associated abnormalities, suggesting a new, severe autosomal recessive variant termed "monilethrix syndrome.

This case report describes a 31-year-old woman who developed transient heart failure during the acute phase of Kawasaki disease, highlighting that it can cause myocardial dysfunction in adults.

This article discusses the late presentation of myotonic dystrophy but reports no new clinical findings.

This case report describes a rare instance of double-lined frontoparietal scleroderma en coup de sabre and suggests a genetic basis involving postzygotic mosaicism.

This article reviews the case of a 2-year-old boy with rhombencephalosynapsis and considers its potential links to Gomez–López-Hernández syndrome, suggesting further research into its genetic causes; no new clinical results are reported.

This case study diagnosed a cat with pituitary-dependent hyperadrenocorticism, confirmed by specific hormonal tests and post-mortem findings of adrenal hyperplasia and a pituitary adenoma.

This case study describes a 15-year-old girl with pulmonary Crohn's disease diagnosed via endoscopy, highlighting the potential for endobronchial changes in children with this condition.

In this study, administering dexamethasone rapidly normalized elevated steroid levels in girls with premature adrenarche.

This report describes the first documented case of cutaneous asthenia in a crossbred spayed cat from Turkey, characterized by hyperelastic skin, alopecia, and an ulcerative wound.

This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.

This report describes siblings with vitamin D-dependent rickets type 2, characterized by growth retardation, alopecia totalis, and low 25(OH)D3 levels, highlighting its autosomal recessive pattern and distinction from other rickets types.

This study observed distinct differences in hair characteristics between individuals with cardio-facio-cutaneous syndrome and Costello syndrome, highlighting the role of the RAS pathway in these RASopathies and aiding clinical diagnosis.

This case study highlights that maternal autoimmune diseases like Sjogren syndrome may lead to congenital heart block in neonates, necessitating thorough evaluation of maternal medical history when such conditions present postnatally.

In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.

This case report highlights the first known instance of ANA-negative systemic lupus erythematosus presenting as spontaneous coronary artery dissection, emphasizing a need for rheumatological evaluation in such patients.

This case report described a girl with a cervical lymphangioma whose hair texture unexpectedly changed due to Horner's syndrome following tumor resection surgery.

This case report describes a young man diagnosed with encephalocraniocutaneous lipomatosis who had unique bilateral optic disc colobomas, a previously unreported association with this syndrome.

This study found that real-time 2-D Doppler echo of intracardiac blood flow helps evaluate myocardial infarction severity, with persistent late systolic inflow indicating worse left ventricular function.

This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.

This case report describes a man diagnosed with Hoffman syndrome, characterized by muscle hypertrophy and weakness due to severe hypothyroidism, who had an excellent response to thyroid hormone replacement.

This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.

This case report describes the first instance of juvenile hemochromatosis type 2A associated with secondary hypothyroidism, linked to a novel mutation in the HJV gene.

In this case report, a 46-year-old woman initially diagnosed with 21-hydroxylase deficiency congenital adrenal hyperplasia was later identified as having 3β-HSD2 deficiency after further investigation, highlighting the need for awareness of rarer CAH forms to prevent delayed diagnosis and insufficient treatment.

In this study, the researchers reported a new case of Hutchinson-Gilford progeria syndrome with a novel LMNA mutation and successful surgical intervention for airway obstruction.

In this study, early prenatal treatment with Minoxidil, a lysyl hydroxylase inhibitor, partly improved cardiac outflow tract septation in Tbx1 mutant mice, suggesting that inhibiting collagen cross-linking may mitigate some effects of Tbx1 mutation associated with DiGeorge syndrome.

This case series reports three cats diagnosed with hypersomatotropism due to GH-secreting pituitary adenomas without concurrent diabetes mellitus, highlighting the potential for underdiagnosis in non-diabetic cats.

The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.

This report describes a patient with X-linked hypohidrotic ectodermal dysplasia who lacked the usual hair growth issues, highlighting the challenge of diagnosing this condition due to atypical presentations and underscoring the need for awareness to improve management and future planning.

This case study reports a patient with ACTH-driven cortisol secretion 14 years after adrenalectomy, suggesting possible residual adrenal tissue or extra-adrenal steroid synthesis, challenging the need for lifelong steroid replacement.

This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.