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A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

DPP4-positive fibroblasts play a major role in producing proteins that lead to skin fibrosis.

A rare skin reaction from cancer treatment was successfully managed with topical treatments and antihistamines.

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

CDH3-related disease causes worsening eye and hair issues.

A woman had a skin condition with increased normal elastic fibers, not related to other known disorders, likely due to aging.

Vulvar acne, also known as "vulvar Fordyce adenitis", is a condition causing painful bumps on the labia, and it's not always effectively treated with common acne medications, but isotretinoin has shown promise.

Methotrexate effectively managed SAPHO syndrome symptoms when other treatments failed.

A rare form of lupus caused hair loss and skin bumps, diagnosed through biopsy, improved partially with treatment.

A 10-year-old girl with Fox Fordyce disease improved with treatment, suggesting the disease can occur before puberty and might be underdiagnosed in young girls.

Technique effectively treats deformities, achieves re-pigmentation, and releases scar contractures.

People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.

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

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

Most patients experienced mild to moderate skin problems during a trial for a desmoid tumor treatment.

Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.

A man developed a rash similar to pityriasis rubra pilaris after starting sorafenib for cancer, possibly due to the drug's effect on skin cells.

A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.

Pachyonychia congenita is linked to a keratin gene on chromosome 17.

A multi-drug treatment can effectively clear extensive calcinosis in juvenile dermatomyositis.

A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.

Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.

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

Some cases of folliculotropic mycosis fungoides may progress slowly and not need aggressive treatment.

Accurate diagnosis of APL is crucial to avoid unnecessary treatments.