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A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.

A man with itchy skin lesions and weight loss was diagnosed with a rare skin condition linked to a pancreatic tumor.

Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.

A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.

Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.

Cathepsin L deficiency causes hair and skin issues in mice.

A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.

Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.

Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.

Biotin improved hair appearance in uncombable hair syndrome but didn't change hair structure.

AKN might be a skin marker for metabolic syndrome.

EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.

Topical minoxidil and tretinoin improved hair growth in a girl with EDSS1 over two years.

Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.

Hair shaft disorders often indicate genetic or systemic issues and are managed by minimizing damage.

Trichotillomania may have a genetic link to psychiatric disorders.

Eating disorders can cause skin problems, which may help with early diagnosis and treatment.

A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.

Trichoscopy is crucial for diagnosing rare genetic hair disorders.

A 54-year-old woman experienced progressive hair loss starting in adolescence, leading to sparse scalp hair and almost no eyebrows or eyelashes.

A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.

A 14-year-old girl with a condition that makes her hair easy to pull out also has a hair-pulling disorder, and treatment helped but she relapsed after a year.

Nilotinib can cause skin issues like red bumps and hair loss.

Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.