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The infant with a urea cycle disorder improved with treatment and a liver transplant.

The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.

The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.

Alopecia in animals can be hereditary, congenital, or acquired, with treatments and outcomes varying widely.

To diagnose Polycystic Ovarian Syndrome, two out of three signs—irregular periods, high male hormone levels, or cysts on the ovaries—are needed.

Different hair and scalp disorders cause hair loss or excess hair growth, with various treatments available depending on the specific condition.

Iron supplements may reverse premature graying in iron-deficient individuals; ingrown nails are common in diabetics with certain risk factors; topical finasteride may reduce scalp DHT as effectively as oral finasteride; monilethrix treatment is challenging but some medications can help.

Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.

The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.

Female pattern hair loss is different from male pattern hair loss and has unclear genetic causes.

FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.

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

Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.

The fuzzy gene is crucial for controlling hair growth cycles.

A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.

The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.

Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.

A gene mutation in Lama3 is linked to a common type of hair loss.

Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.

Cantú syndrome is caused by mutations in the ABCC9 gene.

Mutations in the RBPJ gene cause Adams-Oliver Syndrome.

Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.

The genes KRT25 and SP6 affect curly hair in horses, with KRT25 also causing hair loss. If both genes are mutated, the horse gets curly hair and hair loss. KRT25 can hide the effect of SP6.

A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.

Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.

Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.

Researchers made a mouse model with curly hair and hair loss by editing a gene.

New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.