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5 / 53 resultsresearch Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
research [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
research Case Report: A case of Rothmund–Thomson syndrome-like phenotype with an ANAPC1 variant of uncertain significance and observed hair improvement
This case report describes a 29-year-old man with a Rothmund–Thomson syndrome-like phenotype, who exhibited lifelong sparse scalp hair and other symptoms, and was found to have a variant of uncertain significance in the ANAPC1 gene. After undergoing combination therapy, the patient showed increased hair density and shaft thickness after 6 months. Although this observation suggests a potential link between the ANAPC1 variant and hair improvement, it does not establish a definitive genotype–phenotype correlation. The case highlights the potential benefits of symptomatic management in complex genodermatoses, despite the lack of a confirmed molecular diagnosis, and calls for further research to validate the pathogenicity of the ANAPC1 variant.
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.
Community Join
5 / 1000+ resultscommunity 21m, curious about what's going on with my hair
A 21-year-old male with a thyroid condition noticed his hair thinning uniformly without a receding hairline. He is considering using a 5ARI to prevent further baldness if he starts TRT.
community Update of my case, might have finally found what happened
OP believes RU58841 affected their thyroid, causing hypothyroidism and impacting minoxidil's effectiveness. They plan to start thyroid medication to improve hair regrowth.
community Sudden Triangular Thinning Patch
A 31-year-old has been using finasteride, dutasteride, and oral minoxidil for hair loss. They noticed a sudden triangular thinning patch on their scalp and are seeking advice, questioning if it could be medication-related.
community Dont know what the hell is going on.
The user experienced rapid diffuse hair thinning for five years despite no signs of AGA or miniaturization. They tried finasteride and oral minoxidil without success and have checked thyroid, iron, and vitamin D levels.
community Extreme caution: my experience using Ru58841 only once
An 18-year-old experienced severe side effects, including heart palpitations and high blood pressure, after using RU58841 once, leading to a referral to cardiology for suspected left ventricular hypertrophy. The user regrets using RU58841 and seeks advice on recovery, while others suggest preexisting conditions or genetic predispositions may be factors.