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Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.

New gene variants were found for rare skin and hair disorders, improving understanding and treatment.

A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.

A patient with a rare disease had a unique genetic mutation linked to their symptoms.

Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.

A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.

A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.

Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.

Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.

A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.

Trichoscopy is crucial for diagnosing rare genetic hair disorders.

A 6-year-old girl was diagnosed with a rare hair disorder and started treatment with topical minoxidil.

Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.

Loss of keratin K2 causes skin problems and inflammation.

Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.

A rare gene mutation causes skin fragility and itching without affecting hair or nails.

The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.

Trichothiodystrophy causes abnormal protein deposits and distortion in hair follicles.

The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.

Netherton's syndrome may have a familial link and doesn't always include atopy.

Graham-Little Piccardi Lassueur Syndrome is a rare skin condition with specific hair loss and skin symptoms.

Krt16-deficient mice help understand skin disorders like PC and FNEPPK.

Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.

The study found no common cause for a girl's crystalline cataract and uncombable hair, suggesting their co-occurrence might be coincidental.

Early diagnosis of Keratosis pilaris atrophicans faciei can lead to better, personalized treatments.

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

The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.

A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.

A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.