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The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.

Intravital microscopy helps us see how parasites interact with skin and fat in living animals.

A rare skin condition in a baby showed unusual fat and hair follicle changes.

A patient with a rare disease had a unique genetic mutation linked to their symptoms.

New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.

New mutations in the hairless gene may cause hair loss and affect bone development.

The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.

The oncoprotein causes abnormal hair growth without increasing skin cancer risk.

Recognizing bamboo hair helps diagnose Netherton’s syndrome.

Mutations in the hairless gene cause a rare form of permanent hair loss.

Trichodysplasia spinulosa is a rare skin condition linked to weakened immune systems, mostly in organ transplant patients.

Cystic panfolliculoma is a rare, harmless tumor that can be confused with other skin tumors.

Danon disease can be hard to diagnose due to non-specific symptoms.

A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.

A woman with a rare type of dermatomyositis improved with low-dose prednisone and methotrexate.

A 4-year-old girl was diagnosed with erythrokeratodermia variabilis after other treatments failed.

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.

A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.

Overexpressing Merkel cell virus proteins in human hair follicles can create clusters of cells that resemble Merkel cell cancer.

A rare skin condition appeared on a 19-year-old woman's scalp.

Onychomatricoma is a unique nail tumor that mimics the entire nail unit and is not related to other hair-related tumors.

GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.

The hair defect is due to abnormal inner root sheath keratinization.

The study developed a successful mouse model to study skin infections, highlighting the importance of choosing the right fungal strains.

New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.

A new method can better diagnose eruptive vellus hair cysts.

Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.

Lipid-antigen stimulation may play a role in folliculotropic mycosis fungoides.

A 16-year-old boy had a rare case of Becker's nevus on his face and mouth.