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.
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360-390 / 1000+ resultsresearch Clinical and Trichoscopy Features in Trichorhinophalangeal Syndrome: A Multicenter Retrospective Study
Hair changes and a high occipital hairline may help diagnose Trichorhinophalangeal Syndrome.
research Woolly Hair in Two Siblings
Two siblings have a rare genetic condition causing curly, coarse hair.
research Case of Cronkhite Canada Syndrome - A Non-Inherited Gastrointestinal Polyposis Syndrome
A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.
research 41761 Alpha-gal Syndrome for the Dermatologist
Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.
research For early diagnosis of young patients with Werner syndrome: Indication for genetic testing
Genetic testing is recommended for young patients showing signs like cataracts and hair changes to diagnose Werner syndrome early.
research Adams–Oliver syndrome: new evidence in variable expressivity?
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
research Lipin 1 Gene Polymorphisms in Polycystic Ovary Syndrome
Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.
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 A case of localized uncombable hair syndrome
A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
research SAT-213 Late Diagnosis of Complete Androgen Insensitivity
A 31-year-old woman was diagnosed with Complete Androgen Insensitivity Syndrome much later than usual, leading to a call for earlier detection and treatment guidelines.
research Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects
Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
research SUN-287 A Case of Ectopic Neurohypophysis
The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
research Hypotrichosis in a child with olmsted syndrome
A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
research A Case of Loose Anagen Hair Syndrome in a Southeast Asian Boy
A Thai boy was diagnosed with a rare hair disorder causing hair thinning and shedding.
research Dysregulation of Grainyhead-like 3 expression causes widespread developmental defects
Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
research A polarizing light microscopy can be an easy and reliable diagnostic tool of congenital keratinizing disorders including Netherton syndrome
Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
research Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
New LSS gene variants help understand congenital hypotrichosis 14 better.
research Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report
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.
research Hutchinson-Gilford progeria syndrome - A brief introduction
Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
research HAIR-AN Syndrome: A Systematic Review of Clinical, Metabolic, and Hormonal Features in Women of Reproductive Age
HAIR-AN syndrome mainly affects obese women and can be improved with early diagnosis and treatment using insulin-sensitizing agents.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research A Case Report of Werner’s Syndrome With a Novel Mutation From India
A new genetic mutation causing Werner's syndrome was found in an Indian man.
research Diagnosis by Hair Sample:A Rare Case of Netherton Syndrome in a 2-Year-Old Girl
Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
research [Netherton's syndrome in two sisters].
Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
research Morphological study in a mechanism of congenital pili torti formation: Björnstad syndrome
Björnstad syndrome causes twisted hair from birth.
research Choroidal Melanoma and Lid Fibrofoliculomas in Birt-Hogg-Dubé Syndrome
A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
research A Mutation in the Serum and Glucocorticoid-Inducible Kinase-Like Kinase (Sgkl) Gene is Associated with Defective Hair Growth in Mice
A mutation in the Sgkl gene causes defective hair growth in mice.