research Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome
Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
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research Tofacitinib Citrate for the Treatment of Nail Dystrophy Associated With Alopecia Universalis
Tofacitinib citrate improved nail dystrophy and pain in patients with alopecia universalis without causing side effects.
research Woolly Hair in Two Siblings
Two siblings have a rare genetic condition causing curly, coarse hair.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research ATRICHIA WITH PAPULAR LESIONS – A CASE REPORT
No effective treatment exists to stimulate hair growth in atrichia with papular lesions.
research Hypothalamic hamartoma with pubertas precox and gelastic seizure in a boy (Case Report)
A boy with early puberty and laughing seizures was treated, stopping seizures and slowing puberty.
research Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
research - Tumor necrosis factor-alpha inhibitor associated psoriasiform alopecia (drug-induced psoriasiform alopecia)
Some patients on anti-TNF drugs experience a type of hair loss called TAIAPA.
research A Unique Case of Trichorrhexis Nodosa—"Bamboo Hairs"
A 4-year-old girl has a rare hair condition causing fragile, short hair.
research NUDT15 R139C-related thiopurine leukocytopenia is mediated by 6-thioguanine nucleotide-independent mechanism in Japanese patients with inflammatory bowel disease
The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Efficacy and safety of glucocorticoids in the treatment of progressive muscular dystrophy in children: a systematic review and meta-analysis
Glucocorticoids for progressive muscular dystrophy in children don't improve muscle strength or function but do increase certain side effects.
research Loose anagen syndrome in one identical twin girl.
A 2-year-old girl had a hair disorder not shared by her identical twin.
research From Hair-Pulling to Trichobezoars and Rapunzel Syndrome: A Comprehensive Review of Trichotillomania
Trichotillomania is an obsessive-compulsive disorder causing hair pulling, needing complex treatment to prevent serious issues.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Monilethrix, a rare inherited hair shaft disorder in siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
research Lentiginosis within plaques of linear atrophoderma of Moulin: a twin-spotting phenomenon?
The document suggests a rare skin condition might be caused by a genetic phenomenon.
research Under-diagnosed psychiatric syndrome. I: Trichotillomania.
Trichotillomania is a chronic condition where people uncontrollably pull out their hair, often starting in childhood.
research Plica Neuropathica (Polonica) Secondary to Diffuse Alopecia: A Case Report and Literature Review
Plica neuropathica can occur with diffuse alopecia and should be considered in diagnosis.
research P-017 CUSHING'S SYNDROME DUE TO PRIMARY BILATERAL MACRONODULAR ADRENAL HYPERPLASIA AND METACRONOUS PHEOCHROMOCYTOMA
A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.
research Paint brush hair: a case report
Shaving and avoiding brushing improved the patient's beard hair condition.
research FRI220 Primary Bilateral Macronodular Adrenal Hyperplasia: A Rare Cause Of Cushing Syndrome
A rare case of Cushing syndrome was successfully treated with one-sided adrenal gland removal, suggesting personalized treatment is important.
research L’étude PCPT
research SAT-510 Association of Myotonic Dystrophy with Autoimmune Endocrinopathies and Thyroid Carcinoma
A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
research Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
research El teorema del 0,7 o el otro teorema de Pitágoras
A CCS patient with severe complications was successfully treated using combined therapies.
research Pathogenesis and management of TRPV3-related Olmsted syndrome
EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.
research Updates on Trichodysplasia Spinulosa Disease
Trichodysplasia spinulosa is a rare skin condition linked to weakened immune systems, mostly in organ transplant patients.
research Trichotillomania Across the Life Span
Trichotillomania is a chronic hair-pulling disorder that starts in early teens and causes distress and hair loss.
research Abnormalities of Purkinje Cell Arborization in Brindled Mouse Cerebellum
Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.