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

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

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.

The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.

A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.

Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.

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.

PRP helps hair growth in common hair loss disorder.

A patient with sickle cell trait and low vitamin D might have lupus, a rare combination that needs more attention.

A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.

Finasteride irreversibly affects human steroid 5α-reductase 2, providing insight into its catalytic mechanism and disease-related mutations.

The document concludes that hair loss in cats is caused by various factors, including allergies, mites, infections, and hormonal issues, with treatments varying accordingly.

Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.

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

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

CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.

Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.

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

Hormones, especially testosterone and DHT, are key for penis development and function, and testosterone therapy may help with erectile dysfunction in those with low levels.

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

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

A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.