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The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.

New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.

The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.

PRP helps hair growth in common hair loss disorder.

Children with classic congenital adrenal hyperplasia have thicker heart fat and are at higher risk for heart problems and early atherosclerosis.

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.

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

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

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.

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.

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

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.

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.

Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.

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

The symposium highlighted the importance of understanding disease mechanisms for targeted dermatology treatments.

A cross-bred lamb with severe skin and movement issues had ichthyosis fetalis but normal vitamin A levels.

A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.