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A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.

Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.

Higher androgen levels during puberty are linked to shorter adult height in boys with Silver-Russell syndrome.

Oestrogens are key for bone growth during puberty in both boys and girls.

Premature aging increases the risk of immune problems and autoimmune diseases.

Isolated pubic hair in infants is usually harmless and resolves on its own.

The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.

Type VII collagen absence helps skin development by allowing tissue remodeling.

Myotonic dystrophy may be classified as a segmental progeroid disorder.

A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.

Consider Sertoli-Leydig cell tumors in Peutz-Jeghers syndrome patients with adnexal masses.

Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.

A mutation in the KRTHB5 gene causes hair and nail issues.

A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.

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

Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.

BMP5 is essential for ear cartilage cell growth in rodents.

Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.

People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.

Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.

Zinc supplements and weaning cured a breast-fed baby's zinc deficiency caused by a gene mutation.

A specific gene mutation causes vitamin D-resistant rickets and hair loss.

Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

A rare EGFR mutation in newborns leads to severe health issues and early death.

New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.

An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.

A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.