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Some women with excess hair growth have a hormone condition that can't be diagnosed by blood or urine tests alone.

The -866G/A polymorphism in the UCP2 gene is not linked to polycystic ovary syndrome.

A new genetic mutation was found causing hair and eye issues in a boy.

Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.

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Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.

Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.

A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.

Certain hormone levels can help diagnose P450 oxidoreductase deficiency.

ODC expression in mouse skin and tumors is varied and can be inhibited by retinoic acid or cycloheximide.

The enzyme system in hair follicles is similar to the liver's and is affected by certain inhibitors.

The infant with a urea cycle disorder improved with treatment and a liver transplant.

The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.

Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.

A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.

Avoiding dyed wigs and clothing improved severe allergic reactions in a woman treated with diphencyprone.

A special diet can fix hair problems in argininosuccinase deficiency.

An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.

A rare skin condition causes red and dark patches on the face and limbs.

Mutations in specific genes cause different types of ectodermal dysplasias.

VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.

Researchers found a gene mutation responsible for a rare hair loss condition.

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.

Taking vitamin B6 corrected a pregnant woman's metabolic disorder, which changed her hair color.

Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.

A man's skin condition and poor diet led to a scurvy diagnosis.

Replenishing iron after phlebotomy can cause relapse in porphyria cutanea tarda.

A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.