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A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.

Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.

New mutations in the DSG4 gene cause a rare hair condition.

A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.

A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.

Two new gene mutations cause a rare hair disorder.

Recognizing specific markers is crucial for correctly diagnosing and treating rare multifocal MPTT in males.

The patient's hair was thinner and had fewer lipids due to a genetic mutation.

A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.

A rare hair follicle tumor showed unusual high levels of mucin.

Recognizing bamboo hair helps diagnose Netherton’s syndrome.

Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.

CARASIL can cause different symptoms even with the same genetic mutation.

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

A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.

CDH3-related disease causes worsening eye and hair issues.

HOXC13 is crucial for regulating hair keratin genes in hair follicles.

Recognizing minor skin lesions can help identify serious cancer syndromes.

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

A mutation in the hHb3 gene is linked to the hair disorder monilethrix.

A Chinese man with KID syndrome had a new mutation in the GJB2 gene.

Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.

Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.

New genetic mutations linked to rare skin disorders were found in three newborns.

A boy's hair turned red because of genetic mutations, not lack of zinc.

A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.

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

Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.

A rare genetic disease causes sparse hair and early blindness due to a gene mutation.

Isolated patchy heterochromia with pili annulati can occur without other health issues.