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The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.

A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.

DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.

FAPD is a possible diagnosis for hair loss in patients of color and requires multiple evaluations for accurate diagnosis.

SPRY1 deficiency in skin cells causes stem cells to move to the skin surface, leading to increased pigmentation.

Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.

Deleting a specific protein in skin cells disrupts normal hair growth and development.

The skin lesion was diagnosed as a matrical cyst with unusual features.

A rare skin condition with cysts was found on a 5-year-old boy's scalp.

Consider rare forms of CAH for accurate diagnosis and treatment.

BMP5 is essential for ear cartilage cell growth in rodents.

Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.

Basement membrane changes in lichen planopilaris cause scarring and permanent hair loss.

Pseudopelade is likely an independent disease due to its distinct features.

Pigmented papules on the ear can be a rare skin condition called cutaneous amyloidosis, treatable with topical tretinoin.

Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.

KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.

Polycystic ovaries and early male baldness are inherited traits.

CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.

A young woman had a rare scalp tumor usually found in older women.

A Turkish woman has a hair condition caused by a LIPH gene mutation.

The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.

Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.

Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.

Removing a specific gene in certain skin cells causes hair loss in mice by disrupting hair follicle development.

Genetic changes in specific proteins contribute to hair loss in some women of African descent.

Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.

The protein Par3 is crucial for healthy skin, affecting the skin barrier, cell differentiation, and stem cell maintenance.

Individuals with this condition often develop male traits and identities at puberty despite being raised as females.

A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.