research Tufted hair folliculitis in a patient affected by pachydermoperiostosis: case report and videodermoscopic features.
The patient improved significantly after treatment, with only one small scar remaining.
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research Index
The document is a detailed guide on skin conditions and treatments for dermatologists.
research Acromegaloidism with normal growth hormone secretion associated with X-Tetrasomy
A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
research Fondation René Touraine
The document concluded that stem cells are crucial for skin repair, regeneration, and may help in developing advanced skin substitutes.
research GAPO syndrome – Report of a rare case and review
GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
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 Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research FAVOURE RACOUCHOT SYNDROME WITH SCALP INVOLVEMENT: A CASE REPORT
A rare skin condition usually found near the eyes was found on a farmer's scalp.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research SAT-214 Satoyoshi Syndrome: A Rare Cause of Premature Ovarian Failure
Satoyoshi syndrome can occur without causing premature ovarian failure.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Satoyoshi syndrome: A rare multisystemic disorder requiring systemic and symptomatic treatment
A patient with Satoyoshi syndrome improved with a treatment combining several medications, including carbamazepine and methotrexate.
research Satoyoshi Syndrome: Difficult to find or treat?
Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
research Graham-Little-Piccardi-Lasseur Syndrome: A Case Report
Early detection of Graham-Little-Piccardi-Lasseur syndrome is key for better management.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research Commonly Misdiagnosed Rare Condition – Toe Tourniquet Syndrome – Literature Review
Toe Tourniquet Syndrome is often misdiagnosed.
research Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.
Advancements in understanding, diagnosing, and managing congenital adrenal hyperplasia have improved treatment and long-term outcomes.
research Hypogonadism as a Reversible Cause of Torsades de Pointes in Men
Low testosterone can cause a heart rhythm problem in men, but fixing it can prevent the issue.
research The prolactin receptor as a therapeutic target in human diseases: browsing new potential indications
Blocking the prolactin receptor might help treat various diseases, but more research is needed.
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 Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
research Gilles de la Tourette syndrome – A treatable condition?
Gilles de la Tourette syndrome is treatable, with behavioral therapy as a recommended first option and other treatments available for more severe cases.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature
The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
research LP-161 Tjalma syndrome (Pseudo-Pseudo Meigs Syndrome): polyserositis with increased CA-125 in patients with systemic lupus erythematosus
Tjalma Syndrome is a rare condition in people with lupus, causing fluid buildup and high CA-125 levels, but not due to tumors.
research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.