Search

everythingexperts & clinicslearnresearchcommunity

for

Search:↓

A five-month-old boy with Omenn syndrome successfully recovered after a stem cell transplant with reduced intensity conditioning.

A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.

Cutaneous Lymphadenoma is a unique skin tumor with specific protein markers and common gene mutations that may cause continuous cell growth.

Rituximab effectively managed a difficult case of juvenile lupus with complications, reducing the need for steroids.

Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.

Acute leukemias with the Philadelphia chromosome may be biphenotypic, and identifying this is important for proper treatment.

A rare case links early-onset alopecia universalis and nephrotic syndrome, suggesting genetic immune issues.

Three siblings with a genetic form of rickets showed different symptoms of the disease.

Careful diagnosis and management of MCTD are crucial due to potential severe complications.

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

MCHR2 gene duplications may be linked to alopecia areata.

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

Systemic mastocytosis may cause a type of hair loss called cicatricial alopecia.

A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.

MCTD should be considered in children with recurring muscle issues, lupus-like symptoms, and edema.

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

A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.

A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.

The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.

A woman with a skin disorder was found to have hepatitis C, which may be linked, and was safely treated with methotrexate.

The rash resolved after stopping ponatinib.

A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.

Ponatinib can cause a rare skin reaction that resolves with topical treatment and temporary drug discontinuation.

A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.

Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.

Ritlecitinib may help treat alopecia areata by protecting hair follicles.

Certain mouse strains develop a skin condition similar to a human hair loss disease due to genetic defects.

The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.

Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.

A mutation in the hHb3 gene is linked to the hair disorder monilethrix.