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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 new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.

Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.

Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.

A gene mutation in Lama3 is linked to a common type of hair loss.

Different genes are linked to various types of hair loss.

The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.

Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.

Non-ablative and ablative fractional lasers helped hair growth in some cases without major side effects, but didn't work for all hair disorders.

5-alpha reductase deficiency leads to male sexual development issues and treatments like finasteride help with prostate enlargement and hair loss.

The document concludes that diagnosing and treating Congenital Adrenal Hyperplasia is complex and requires a team approach due to its effects on the skin and other symptoms.

Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

Removing part of the vitamin D receptor stops vitamin D from working properly.

The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.

Primary cicatricial alopecia, a rare disorder causing permanent hair loss, is hard to diagnose and treat, with treatments like anti-inflammatory drugs and steroids offering varied results and no guaranteed cure. Psychological support for patients is important, and future research should aim to identify causes of the condition.

Systemic diseases can cause hair loss, which is often reversible with treatment.

Looking at skin can help find and treat serious diseases early.

Leptin affects skin and hair health and may worsen some skin conditions, but more research is needed to understand its full impact.

A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.

A 4-year-old boy with a rare type of rickets and hair loss improved in bone health but not hair growth after vitamin D and calcium treatment.

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

The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.

Oral zinc therapy is effective for treating acrodermatitis enteropathica.

"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.

A 28-year-old man with type 1 diabetes had skin and hair issues due to zinc deficiency.

A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.

Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.

Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.