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A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.

A man with Woolly Hair Syndrome had very curly, fragile hair, and doctors used a special scalp examination to diagnose him without invasive tests.

The condition might be caused by genetic changes after birth.

Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.

Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.

A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.

Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.

Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.

A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.

A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.

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

Two babies needed surgery to remove hair tightly wrapped around their toes to prevent serious injury.

A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.

Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.

The infant with a urea cycle disorder improved with treatment and a liver transplant.

Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.

Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.

Cats with abnormal hair had DSG4 gene changes causing hair problems.

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

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

Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.

A baby's toe was saved from serious damage by quickly removing a hair wrapped tightly around it.

Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.

The conclusion is that Darier-White disease was accurately described by White but he missed the key feature of dyskeratotic cells which Darier identified.

5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.

A medication called sodium valproate likely caused a girl's hair to become kinky and dry.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

A six-year-old girl has early signs of puberty, needs no treatment, but requires regular check-ups for future health risks.