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A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.

Stem cells in the cornea show unexpected flexibility and have important implications for medicine.

Recognizing unusual skin, eye, or hair issues can help diagnose immune system disorders early, especially in children.

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

A rare skin condition caused droopy and outward-turning eyelids in a patient.

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

CSC is linked to mineralocorticoid receptor damage, stress, and steroid use, with treatments including drugs and laser therapies to prevent eye damage.

Surgical removal is advised for large congenital blue nevi due to rare cancer risk.

Lupus can cause unusual vision problems, so it's important to consider it in such cases.

A rare skin condition causes red and dark patches on the face and limbs.

Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.

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

The newborn's skin blisters healed without scarring, leaving some light spots, and stopped forming after four months.

A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.

Consider NF1 in newborns with rare congenital anomalies.

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

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

The newborn's skin condition improved over time, leaving only lighter skin patches.

Complete removal of large scalp nevi is recommended to prevent complications.

A new genetic mutation was found causing hair and eye issues in a boy.

The study found no common cause for a girl's crystalline cataract and uncombable hair, suggesting their co-occurrence might be coincidental.

A cross-bred lamb with severe skin and movement issues had ichthyosis fetalis but normal vitamin A levels.

A baby with KID syndrome died from infections and organ failure at 18 months old.

Leukokoria can signal Coats disease or other retinal issues, requiring early detection to prevent severe outcomes.

The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.

Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.

A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.

The condition is harmless, doesn't worsen, and needs no invasive treatment.

LC-OCT can help identify lupus-related scarring hair loss by spotting unique features.

Hair evaluation is crucial for early diagnosis and management of ARCI, as hair loss often indicates severity.