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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.

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

An 8-year-old girl developed a rare skin condition in a linear pattern on one side of her body after a lung infection, which improved with treatment.

Progerin affects cell shape but not hair or skin in mice.

Two unusual cases showed that Lichen Planopilaris can look like other skin conditions and need early treatment to protect hair.

A rare skin condition affected only the facial hair of a 46-year-old man.

Lichen planus pigmentosus causes dark skin patches and is treated by avoiding triggers and using anti-inflammatory medications.

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

Plaquenil can cause a severe skin reaction called AGEP, requiring prompt diagnosis and treatment.

The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.

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

Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.

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

A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.

The LMNA mutation affects skin structure even in asymptomatic carriers.

A woman had both Graham Little-Piccardi-Lassueur syndrome, causing hair loss, and complete androgen insensitivity syndrome, making her genetically male but physically female. This suggests androgens don't affect the hair loss condition.

Lichen planus pigmentosus mainly affects middle-aged women with darker skin, is underreported, and is hard to treat.

Mutations in the LIPH gene cause woolly hair in a child.

A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.

Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.

A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

Defective nuclear transport may cause gene expression changes in Progeria.

An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.

The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.

Removing PLCg1 from skin cells caused thicker oil glands and less hair in mice.

A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.

Four children had unmanageable pale blond hair due to uncombable-hair syndrome.

The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.

A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.