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MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.

Most patients with cutaneous dermatomyositis either improved or remained stable over 3.5 years.

Hair examination helps diagnose rare neurological diseases in children.

A 17-year-old with Netherton syndrome has dry, itchy skin, brittle hair, and high IgE levels, treated with antihistamines and emollients.

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

Genetic factors alone might not cause pemphigus vulgaris; other factors like birth complications and puberty may trigger it.

The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.

Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.

Defective protein folding due to a mutation is key in ANE syndrome.

Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.

Reduced matriptase activity causes skin and hair issues in both humans and mice.

The EMG-to-force model accurately predicts hip muscle forces during walking.

BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.

EF and PXE not closely related.

People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.

Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.

Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.

The patient has a rare skin condition that shows features of two known disorders.

A girl had rickets due to a gene mutation affecting vitamin D response.

Injecting specific cells into the skin can help improve skin structure and reduce blisters in a genetic skin disorder.

Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica in infants.

A rare case of scleredema in a diabetic woman showed loss of sweat glands, causing heat strokes, with treatment only slightly improving symptoms.

Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.

Resident memory T cells and necroptosis may drive fibrosis in eosinophilic fasciitis and morphea.

DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.

Children with different rheumatologic diseases have specific skin symptoms that can help with diagnosis.

Acitretin improved monilethrix symptoms temporarily, but they returned after stopping treatment.