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Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.

Trichofolliculoma was found in a person with amniotic band syndrome for the first time.

Adding aripiprazole to the treatment improved hair-pulling symptoms in a teenager.

Dermoscopy helps diagnose rare GLPLS in males.

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.

TMPRSS2 helps viruses enter cells and protects the prostate from inflammation-related cancer.

Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.

Prednisolone and Bactrim improved symptoms in a woman with Cronkhite-Canada syndrome.

Endoscopic evaluation is crucial for diagnosing complex conditions like Satoyoshi syndrome.

An 8-year-old boy with neurofibromatosis type one also has rare hair and eye disorders.

Patients with RASopathies are at risk for autoimmune disorders and should be routinely screened.

Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.

A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.

A CCS patient with severe complications was successfully treated using combined therapies.

An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.

Trichotillomania treatment is improving with behavior therapy and new drug approaches, but challenges like stigma and underdiagnosis remain.

Trichoscopic examination is crucial for diagnosing congenital triangular alopecia.

CD8+ T cells re-expressing CD45RA may predict treatment resistance in severe alopecia areata.

Behavioral interventions, especially habit reversal training, are most effective for treating trichotillomania in children.

Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.

Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.

A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.

Early recognition of loose anagen hair syndrome is important to prevent misdiagnosis and unnecessary treatments.

Pityriasis rubra pilaris is a rare skin disorder with reddish-orange patches and thickened skin, needing better treatment understanding.

If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.

Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.

The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.

Habit reversal training effectively treats hair-pulling disorder in both adults and children.

Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.