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The combined treatment effectively managed severe skin issues in Olmsted syndrome.

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.

Caffeine may help hair growth in hereditary hair loss.

Three siblings with a genetic form of rickets showed different symptoms of the disease.

Testosterone undecanoate safely and effectively increased penis size in male children with 5-alpha-reductase deficiency.

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.

Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.

With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.

Autoimmune polyglandular syndrome can cause temporary brain issues that may improve on their own.

The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.

CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.

AE can have varied symptoms and genetic causes, but zinc therapy helps.

A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.

Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.

Biotin supplements significantly improved a young girl's uncombable hair.

Mutation in hairless gene may increase hair loss risk.

Mutation in hairless gene may increase hair loss risk.

The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.

CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.

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.

The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.

A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.

Women with nonclassic 21-hydroxylase deficiency can have successful pregnancies through IVF, with certain factors affecting their chances.

Dupilumab helped improve skin and prevent new lesions in a child with a rare immune disorder and severe eczema.

Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.

Antifungal treatment can improve severe skin infections with cutaneous horns.

Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.