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A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

A mutation in the VDR gene affects hair cycling without needing ligand binding.

Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.

A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.

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

Woolly hair syndrome is a genetic condition causing frizzy, fragile hair.

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

TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.

The OVOL1-OVOL2 axis is important for hair follicle differentiation and can help diagnose certain hair-related tumors.

Ovarian hyperthecosis should be considered in young women with severe male-like symptoms and can be managed with hormone treatments.

AS-OCT is crucial for diagnosing VZV interstitial keratitis and avoiding unnecessary treatments.

Topical minoxidil may help treat a rare genetic hair condition with no fully effective treatments yet.

Cronkhite-Canada syndrome can sometimes show unusual colonic adenomatous polyps.

Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.

A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.

A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.

The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.

Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.

Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.

Diagnosing and treating PCOS in young people is difficult.

A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.

The document reports a rare case of ECCL with a new association with optic disc colobomas.

A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.

A 20-year-old woman had stable Progressive Hemifacial Atrophy and Vitiligo after treatment, suggesting a possible link between the conditions.

PCOS is a common hormonal disorder in women, treated with lifestyle changes and hormonal therapy.

Recognizing bamboo hair helps diagnose Netherton’s syndrome.

Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.

A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.

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

The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.