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A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

Patients with hair loss are much more likely to have body dysmorphic disorder than general dermatology patients.

New mutations in the DSG4 gene cause a rare hair condition.

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

Msx2 is essential for proper enamel formation by preventing abnormal cell transformation.

A young woman had a rare, usually non-cancerous tumor on her face that was initially mistaken for a different condition.

New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.

A specific gene mutation causes sparse, brittle hair in a family.

A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.

The condition might be caused by genetic changes after birth.

Frontal fibrosing alopecia can occur in children, not just postmenopausal women.

Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.

A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.

Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.

Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.

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

Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.

Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.

"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.

Localized dystrophic epidermolysis bullosa (DEB) can lead to scarring alopecia, highlighting the need to recognize and address this complication.

Björnstad syndrome can cause hair loss similar to androgenetic alopecia, and treatment with baricitinib and minoxidil may help.

People with Down syndrome often have skin issues and need regular check-ups for early treatment.

Higher testosterone and dehydroepiandrosterone sulphate levels may help diagnose meibomian gland dysfunction.

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

A rare skin condition in children can look like other diseases.

An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.

Mutations in the DSG4 gene cause specific hair and scalp issues.

A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.

A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.