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A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.

Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.

Biotin, alone or with minoxidil, effectively treats short anagen syndrome.

The toddler's health issues were caused by too much vitamin A from supplements.

Metabolic disorders can cause hair structure defects and growth issues, but amino acid levels in hair remain normal.

A specific gene mutation causes a severe skin disorder in a family.

A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.

A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.