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

A 24-month-old Nigerian girl developed early puberty with no family history, needing treatment her family couldn't afford.

Standard treatment for congenital erythropoietic porphyria was ineffective over five years.

A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.

Two siblings have a rare hair condition caused by a new genetic variant.

The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.

Monilethrix is a rare, inherited condition causing fragile hair and hair loss, with no cure but some treatments may help.

Progranulin overexpression leads to shorter, thinner hair and increased cell death in mouse hair follicles.

HLD10 can include increased body hair and Mongolian spots.

A young boy with a rare skin and nail condition improved significantly with simple topical treatments.

Early diagnosis and prednisone treatment can improve outcomes in Cronkhite-Canada syndrome.

DPR can cause skin, hair, and nail issues, sometimes appearing later in life.

A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.

An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

Oral propranolol successfully treated a baby's skin growth and ulceration linked to PELVIS syndrome.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.

A rare genetic disease causes sparse hair and early blindness due to a gene mutation.

Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.

A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.

A rare gene mutation causes skin fragility and itching without affecting hair or nails.

Atrichia with papular lesions causes irreversible hair loss from infancy and is often misdiagnosed.

Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.

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

Delayed puberty often runs in families, can affect growth, and may need hormone treatment.

Familial sexual precocity in girls may be more common than previously thought.

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

A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.