research A case of familial trichomegaly with synophrys in association with loose anagen syndrome
A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.
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450-480 / 1000+ resultsresearch Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
research Adult-onset Satoyoshi syndrome in a young male
A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.
research Penile Thread Tourniquet Syndrome: A Case Report and Review of Age-Related Variability
Awareness of Penile Thread Tourniquet Syndrome is crucial for preventing severe complications in children.
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 Polycystic Ovary Syndrome Mimicking an Androgen-Secreting Tumor
A young girl with high testosterone was thought to have a tumor but actually had PCOS, which was treated with birth control pills.
research A solitary triangular alopecia
A five-year-old girl has a harmless, unchanging bald patch on her scalp.
research Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report
A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
research Hair Tourniquet Syndrome of the Toe: Report of 2 New Cases
Two babies needed surgery to remove hair tightly wrapped around their toes to prevent serious injury.
research Congenital triangular alopecia: A close mimicker of alopecia areata
CTA is often mistaken for AA but doesn't respond to steroids and may require hair transplantation.
research Use of dermoscopy in the diagnosis of temporal triangular alopecia
Dermoscopy helps accurately diagnose temporal triangular alopecia, avoiding unnecessary treatments.
research TRPS1 haploinsufficiency results in increased STAT3 and SOX9 mRNA expression in hair follicles in trichorhinophalangeal syndrome
Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
research Parry-Romberg Syndrome: A Rare Case with Diagnostic Challenges and Orthodontic Implications
Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
research DP15 Syphilis: the chameleon disease. A case series of unexpected mimicry
Syphilis can mimic other diseases, making diagnosis challenging, but proper testing and treatment are effective.
research Netherton Syndrome Associated with Growth Hormone Deficiency
Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
research Queen Anne sign
Severe hypothyroidism can cause eyebrow hair loss, but improves with thyroid hormone treatment.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research Coexisting trichorrhexis nodosa and pili annulati: a case report of hair shaft abnormalities in a syrian family
A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
research A Case of Satoyoshi Syndrome: A Multisystem Disorder
Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.
research Clouston’s Syndrome-A Case Report
Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
research Hair Shaft Videodermoscopy in Netherton Syndrome
Trichoscopy can diagnose Netherton syndrome without pulling hairs.
research Thiamin Deficiency and Alopecia
Thiamin deficiency might cause hair loss and mental health issues.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Rothmund‐Thomson syndrome type 2 – a rare cause of chronic wounds
Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
research Hair‐thread tourniquet syndrome
A hair strand caused a rare case of limb strangulation in a teenage girl with autism, and the condition is not always linked to child abuse.