Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This case report describes a 10-month-old boy with VACTERL association and athymia who developed Omenn syndrome, highlighting the complex overlap of these conditions and the challenging clinical course due to profound T-cell immunodeficiency.

This study reports a case of Ellis van Creveld syndrome in a 40-year-old Iranian woman, highlighting uncommon features such as pectus excavatum, Phrygian cap gallbladder, liver hemangioma, polycystic ovarian disease, and breast fibrocystic cysts.

This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.

This case report describes a child with Gomez–Lopez–Hernandez syndrome, highlighting developmental challenges and medical interventions, yet noting academic success and participation in mainstream activities.

Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.

This study observed that human hair follicles were able to regenerate fiber-forming structures after the bulb was amputated and transplanted onto athymic mice, suggesting a general regenerative capacity.

This review discusses the use of animal models to study alopecia areata and reports no new experimental results, emphasizing the potential for these models to explore the disease's genetics and treatment.

This study demonstrated that intact adult human dermal papillae can induce hair growth when implanted into mouse hair follicles, highlighting their potential for advancing hair follicle biology and therapeutic approaches.

This study found that dermal papilla cells may play a critical role in hair follicle development and cycling by promoting epidermal proliferation and potentially mediating systemic factors that influence follicle behavior.

This study found that adrenal sex hormone levels were elevated in neutered dogs with hypercortisolemia, except for testosterone, highlighting the importance of ruling out hypercortisolemia when diagnosing adrenal hyperplasia syndrome.

In this study, three cases of Cronkhite-Canada syndrome revealed small bowel mucosal lesions, but these findings did not correlate with clinical symptoms or steroid treatment outcomes.

This case report describes the first documented occurrence of hemi-Isaac's syndrome or acquired neuromyotonia affecting only one side of the body, with symptoms improving after immunomodulatory treatment.

This report describes a case of Birt-Hogg-Dube syndrome with manifestations including multiple fibrofolliculomas, acrochordons, and renal oncocytoma.

This report describes a 3-year-old boy with a potential new neurocutaneous syndrome characterized by unilateral alopecia, ipsilateral hemimegalencephaly, and intractable seizures.

This study described a Scottish family with hidrotic ectodermal dysplasia featuring variable symptoms such as hypo/oligodontia, thin hair, and heat tolerance, and concluded they exhibited overlapping traits with Clouston syndrome.

This case report describes a young patient with a unique combination of dysmorphism, bullous eruption, skin and muscle atrophy, and hyperpigmentation that doesn't fit existing nosological categories.

This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.

This case study describes a 31-year-old man with myotonia and a history of hypertrophic cardiomyopathy and androgenic alopecia, who presented with arm and leg weakness.

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 reports the first documented case of Cronkhite-Canada syndrome in a patient with myelodysplastic syndrome, where corticosteroids dramatically improved the patient's condition.

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 report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.

In this case report, a 33-year-old male with symptoms resembling Neuromyelitis Optica was treated with 10 mg biotin daily, which may reverse certain ophthalmologic and myelopathy findings. The researchers emphasize the need for further research on biotinidase deficiency in patients misdiagnosed with similar conditions.

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 report details a case of a 3-year-old child with Clouston syndrome, a rare inherited disorder affecting nails, skin, and hair, highlighting the need for supportive management due to the absence of treatment options.

Recognizing minor skin lesions can help identify serious cancer syndromes.

This study reports a unique case of trichotillomania as a presenting sign in a patient with neurological Wilson's disease, confirmed by genetic testing and copper abnormalities.

In this case study, repetitive botulinum type A toxin injections led to almost complete resolution of severe chronic pain in a patient with Parry-Romberg syndrome.

This report describes a 23-year-old male with Clouston’s syndrome, characterized by nail abnormalities, palmoplantar skin thickening, anodontia, and androgenic alopecia, highlighting the need for supportive management due to the lack of a definitive treatment.