research From local to systemic: endoscopic findings reshape the diagnostic paradigm of satoyoshi syndrome – a case report
Endoscopic evaluation is crucial for diagnosing complex conditions like Satoyoshi syndrome.
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research Woolly Hair in Two Siblings
Two siblings have a rare genetic condition causing curly, coarse hair.
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 Rabbit syndrome because of topical minoxidil foam
Using too much minoxidil foam can cause a rare movement disorder with facial twitching, but symptoms go away when the correct dose is used.
research Rapunzel Syndrome as a Rare Presentation of Trichobezoar
A 16-year-old girl with a hair-eating disorder needed surgery to remove a hairball from her stomach and small bowel.
research Trichoscopic clues for diagnosis of alopecia areata and trichotillomania in Asians
Trichoscopy helps tell apart alopecia areata and trichotillomania in Asians by looking at specific hair and scalp features.
research Trichotillomania
Clomipramine may significantly reduce hair-pulling in Trichotillomania, but more research is needed on treatments and early onset cases.
research Familial aggregation of phenotypic expression of premature hair hypopigmentation in the craniofacial region
Premature hair graying in the face may be influenced by genetics and environment.
research Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research Premature aging syndromes: From patients to mechanism
Studying premature aging syndromes helps understand human aging and suggests potential treatments.
research Severe cardiac conduction abnormalities associated with atypical toxic shock syndrome
A boy with toxic shock syndrome had severe heart rhythm problems but recovered with treatment.
research Two familial cases of Olmsted-like syndrome with a G573V mutation of theTRPV3gene
A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
research ODP292 A Xanthomatous Hypophysitis: Always Think Twice Before Pituitary Resection.
Always consider xanthomatous hypophysitis before deciding on pituitary surgery.
research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research Bilateral ovarian steroid cell tumor in a postmenopausal woman with progressive hyperandrogenism
Surgery removed ovarian tumors, normalizing testosterone and improving symptoms.
research Schimmelpenning syndrome with dydimosis aplasticosebacea in a one-month-old girl
Older men's scalp damage increases with age and sun exposure, a baby girl in the Philippines has Schimmelpenning syndrome, and thyroid screening is advised for children with hair loss and certain risk factors.
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 A Case of Familial Male-limited Precocious Puberty with a Novel Mutation
A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
research Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review
The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
research Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
research Trichotillomania
Trichotillomania is a challenging-to-treat impulse-control disorder where individuals pull out their hair, more common in females, with some treatments showing benefits.
research Ichthyosis linearis circumflexa with bamboo hair: challenges in the diagnosis and management
A 15-year-old boy's skin and hair condition worsened due to improper treatment, leading to severe health issues.
research Repetitive Transcranial Magnetic Stimulation for Treatment of Trichotillomania: Case Series
rTMS may help treat trichotillomania in some patients.
research A rare hair loss in children: Monilethrix
Monilethrix is a rare, inherited condition causing fragile hair and hair loss, with no cure but some treatments may help.
research Moniletherix
Monilethrix causes short, fragile hair with no specific treatment available.
research Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome
Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
research A 9-month-old infant with severe scalp dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research Case 5: A Very Tall 7-year-old Boy with Medulloblastoma
A 7-year-old boy with a brain tumor developed early puberty, which was successfully treated with medication.
research A Founder Mutation in the POMC 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.