Search

everythinglearnresearchcommunity

for

Search:↓

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

New mutations in the DSG4 gene cause a rare hair condition.

A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.

The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.

Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.

A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.

Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.

Neuromyotonia and morphoea can occur together in the same body areas.

A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.

A six-year-old girl with extra hair on her elbows was treated with hair removal methods.

Netherton's disease causes multiple hair defects.

Elkonyxis, a rare nail condition, improved when patients stopped their nail-picking habits.

Ectopic acanthosis nigricans can occur at surgical sites due to skin graft mismatches.

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

A 4-year-old girl has a rare hair condition causing fragile, short hair.

A hair strand caused a rare case of limb strangulation in a teenage girl with autism, and the condition is not always linked to child abuse.

Netherton syndrome causes skin and hair issues, confirmed by "bamboo hair" under dermoscopy, with no cure but managed with topical treatments.

Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.

Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.

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

Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.

A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.

The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.

The condition is likely inherited in an autosomal-dominant pattern.

A 27-year-old with APS-1 showed improvement in symptoms after treatment.

Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.

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