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A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.

A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.

Desmosomal adhesion is essential for healthy skin structure and function.

A hair wrapped tightly around an infant's toe caused severe damage, requiring early removal and possibly surgery to prevent worse outcomes like amputation.

Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.

A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.

A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.

Mutations in the DSG4 gene cause specific hair and scalp issues.

A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.

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

A new DSG4 gene mutation causes hair defects in a young girl.

Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.

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

A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.

KID syndrome should be reclassified as an ectodermal dysplasia.

Cronkhite-Canada syndrome can sometimes show unusual colonic adenomatous polyps.

A woman with skin and joint issues progressed from one type of lupus to another, highlighting the need to recognize complex conditions.

A rare skin growth in a baby was successfully removed without coming back.

A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.

A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.

Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.

Hair-Thread Tourniquet Syndrome is a rare condition where hair or thread tightly wraps around a child's body part, requiring quick treatment to prevent damage.

A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.

A toddler's chronic finger ulcer was successfully treated after removing a hair causing hair-thread tourniquet syndrome.

A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.

A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.

Cantú syndrome may be linked to pituitary adenomas.

Hair tourniquet syndrome can cause serious harm and may indicate child abuse.

Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.