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A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.

Specific cross-linkages help make hair proteins stable and strong.

A genetic variant in the KRT25 gene causes tightly curled hair.

Goats may need lifelong zinc supplements due to hereditary zinc absorption issues.

Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.

A young woman with lupus was treated with hydroxychloroquine and prednisone.

A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.

Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.

Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.

The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.

A specific gene mutation causes sparse, brittle hair in a family.

Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.

Blood and urine markers are important for diagnosing lupus in children.

A boy on a ketogenic diet and anti-epileptic drugs developed skin issues due to stopping vitamin supplements, which improved with proper supplementation.

Early diagnosis and treatment of NCCAH can improve symptoms and fertility.

A specific metabolite, not a receptor protein, triggers the production of certain kidney enzymes, but this process is disrupted in mice with a mutation causing testicular feminization.

A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.

Mutations in the DSG4 gene cause specific hair and scalp issues.

A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.

A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.

A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.

Early diagnosis and aggressive treatment are crucial for managing SLE-related pancreatitis in children.

Azathioprine can cause unexpected hair loss and severe bone marrow issues, so careful monitoring is needed.

Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

A male with aromatase deficiency improved bone health with estradiol treatment.

Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.

The visfatin GT genotype may increase the risk of Alopecia Areata.

A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.

A man with Klinefelter syndrome had a leg ulcer that didn't heal well, even with treatment.

Tranexamic acid effectively reduced swelling episodes in a girl with a rare form of hereditary angioneurotic edema.