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Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.

Certain medications can cause serious side effects, including skin reactions, stroke, muscle disorders, tongue swelling, hair loss in women, and liver failure.

A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.

Shock wave therapy improved muscle function and movement in children with spastic cerebral palsy.

The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.

A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.

The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.

A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.

A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.

The condition is likely inherited in an autosomal-dominant pattern.

Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.

Björnstad syndrome causes twisted hair from birth.

A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.

Teprotumumab for thyroid eye disease commonly causes fatigue, brittle nails, dry eyes, hair loss, muscle spasms, and dry mouth, with rare serious events like blood clots.

The man had myotonia, which caused delayed hand grip relaxation.

Finasteride can cause muscle weakness and eye movement issues, even at low doses.

Levetiracetam often causes behavioral issues, while oxcarbazepine is more likely to cause sleepiness in epilepsy patients.

Hair examination helps diagnose rare neurological diseases in children.

A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.

Switching to extended-release divalproex sodium improved patient-reported tremor but did not change seizure frequency or most side effects.

Overexpression of PTHrP in chondrocytes causes short-limbed dwarfism and delayed bone formation in mice.

Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.

People with myotonic dystrophy type 1 tend to develop basal cell carcinoma at a younger age but not more frequently than others.

Dystonia may be part of PAS-4 and linked to immune issues.

Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.

The LMNA mutation affects skin structure even in asymptomatic carriers.

VPS13C variants are linked to more severe REM sleep disorder and faster progression to Parkinson's disease.

A new genetic mutation was found causing hair and eye issues in a boy.

Most children with epilepsy on antiepileptic drugs experience side effects, especially those on multiple drugs, but these drugs help reduce seizures.