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People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.

A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.

A five-month-old boy with Omenn syndrome successfully recovered after a stem cell transplant with reduced intensity conditioning.

A specific thyroid hormone resistance mutation may be linked to different types of hair loss.

Simvastatin may help manage symptoms in women with non-classic congenital adrenal hyperplasia by lowering cholesterol and certain hormone levels.

New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.

A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.

A woman's hair turned gray and fell out after starting a cancer drug called imatinib mesylate.

The document concludes that various childhood hair and nail disorders exist, some may improve on their own, and advances in genetics and immunology could enhance treatment and counseling.

Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.

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

The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.

The Hairless gene is crucial for hair cell development, affecting whether skin cells become hair or skin and oil gland cells.

Children's hair loss can be caused by many factors, including autoimmune diseases, emotional stress, genetics, and infections, with treatment and prognosis varying.

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

The document concludes that a thorough history, physical exam, and specific tests are crucial for diagnosing and managing hair loss effectively.

AMH levels can't reliably tell the difference between LOCAH and all types of PCOS in women with excessive hair growth.

Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.

Oral zinc therapy is effective for treating acrodermatitis enteropathica.

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

ESR2 gene linked to female-pattern hair loss.

Researchers found a new mutation in the HR gene linked to a rare hair loss condition.

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.

The lotion and shampoo effectively treated scalp seborrheic dermatitis.

Hairless rats are good for testing anti-inflammatory drugs, similar to haired rats, without needing to remove fur.

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.

Women with non-classic congenital adrenal hyperplasia have higher risk for heart and metabolic problems.

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.

Injecting triamcinolone into the eyebrow area may help eyelash regrowth in alopecia areata patients.