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A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.

A man's rare adrenal tumor caused feminization and white hair, was removed surgically, and improved after treatment.

A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.

A teenage girl had both a rare ovarian tumor and a severe form of polycystic ovarian syndrome.

A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.

Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.

Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.

Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.

A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.

A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.

The boy's symptoms suggest a possible new medical condition.

Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.

A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.

A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.

Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.

Uncombable hair syndrome causes dry, frizzy hair that can't be combed flat, seen in a young child.

A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.

New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.

A 31-year-old woman was diagnosed with Complete Androgen Insensitivity Syndrome much later than usual, leading to a call for earlier detection and treatment guidelines.

A person with Werner syndrome was initially thought to just have female pattern hair loss.

Early diagnosis and treatment are crucial for complex medical conditions.

A 2-year-old girl had a hair disorder not shared by her identical twin.

A boy with toxic shock syndrome had severe heart rhythm problems but recovered with treatment.

The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.

Multiple perifollicular fibromas may actually be unrecognized cases of Birt-Hogg-Dubé syndrome.

Mutations in the RBPJ gene cause Adams-Oliver Syndrome.

Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.

Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.

Pimozide treatment resolved cysts and partially restored cheek fat in a man with Barraquer–Simons syndrome.