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A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.

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

"20-nail dystrophy" can have multiple causes.

Finger length ratio may indicate male hair loss.

Recognizing bamboo hair helps diagnose Netherton’s syndrome.

A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.

Danon disease can be hard to diagnose due to non-specific symptoms.

Two siblings had a rare hair condition with banded hair, which doesn't need treatment.

A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.

People with Down's syndrome are more likely to have syringomas.

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

PolyQ repeats in neural proteins evolve together, affecting brain function and disease.

The patient had complex urinary tract issues and ambiguous genitalia, with physical features suggesting a hormonal imbalance.

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

A 4-year-old girl had a rare hair disorder affecting only part of her scalp.

Two siblings have a rare genetic condition causing curly, coarse hair.

The boy's hair and skin color differences are due to a pigmentation disorder.

Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.

Women with polycystic ovary syndrome tend to have a longer distance between the clitoris and anus.

Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.

A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.

Some families have a genetic condition where they are born with irregular scalp defects.

A dark-haired Chinese girl had hair that looked banded under certain light but was normal under a microscope.

Becker's Melanosis and Hypertrichosis mainly affects young males, causing brown skin patches and extra hair on one side of the upper body.

People with certain hair disorders may also have missing permanent teeth.

Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.

Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.

A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.