research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
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research Androgenetic alopecia as an indicator of metabolic syndrome and cardiovascular risk
Hair loss may indicate higher heart risk and metabolic issues.
research Multiple Pilomatrixoma in Turner Syndrome
Multiple pilomatrixoma may indicate Turner syndrome.
research Sweet Syndrome as the Presenting Symptom of Relapsed Hairy Cell Leukemia
Sweet syndrome can be the only sign of hairy cell leukemia relapse.
research Satoyoshi Syndrome
Satoyoshi syndrome symptoms can improve with corticosteroids and surgery.
research Metabolic syndrome — a new definition and management guidelines
New guidelines stress early diagnosis and lifestyle changes to manage metabolic syndrome and prevent complications.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research Skin disease related to metabolic syndrome in women
Certain skin conditions in women are linked to higher risks of metabolic syndrome and type 2 diabetes due to hormone imbalances.
research Successful induction of oral tolerance in Netherton syndrome
A girl with Netherton syndrome was able to eat wheat without allergies after a special treatment.
research Need for liver evaluation in polycystic ovary syndrome
Women with PCOS often have liver disease, so liver health checks are important for them.
research Metabolic syndrome and dermatological diseases: association and treatment
Metabolic syndrome is linked to skin diseases, requiring integrated treatment and monitoring.
research Comparison of hair manifestations in cardio‐facio‐cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth
The RAS pathway affects hair growth differently in CFCS and CS.
research The association of metabolic syndrome and insulin resistance in early-onset androgenetic alopecia in males: A case–control study
Early-onset male hair loss is linked to metabolic syndrome, suggesting a need for heart health monitoring and lifestyle changes.
research Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence
Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
research Polycystic Ovarian Syndrome: Is It Time to Rename PCOS to HA-PODS?
The article suggests renaming Polycystic Ovarian Syndrome (PCOS) to "Hyperandrogenic Persistent Ovulatory Dysfunction Syndrome" (HA-PODS) for accuracy and consistency, but no final decision was made.
research Alopecia areata as a paraneoplastic syndrome of Hodgkin’s lymphoma: A case report
Alopecia areata can be an early sign of Hodgkin’s lymphoma and may improve with lymphoma treatment.
research NEMO syndrome (incontinentia pigmenti) and systemic lupus erythematosus: A new disease association
NEMO syndrome and systemic lupus erythematosus are linked in a new disease association.
research [Methotrexate to treat SAPHO syndrome with keloidal scars].
Methotrexate effectively managed SAPHO syndrome symptoms when other treatments failed.
research Trichorhinophalangeal Syndrome
Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
research [Cushing syndrome during pregnancy. New diagnostic methods used in 3 cases of adrenal cortex carcinoma].
Early detection of Cushing's syndrome during pregnancy is crucial to prevent severe complications.
research TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology
A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Association of androgenetic alopecia with metabolic syndrome: A case–control study on 100 patients in a tertiary care hospital in South India
Androgenetic alopecia is significantly linked to metabolic syndrome.
research Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient
The study found genetic differences related to hair development that may explain hair loss in a patient with Trichorhinophalangeal syndrome type I.
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 Polycystic ovary syndrome
The document concludes that managing PCOS involves treating symptoms and reducing long-term metabolic risks, with lifestyle changes being important.
research A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?
The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
research AN ATTEMPT TO ASSESS THE MAGNITUDE OF ENDOGENOUS ANDROGEN PRODUCTION IN A CASE OF THE ADRENOGENITAL SYNDROME*
A 17-year-old female with adrenogenital syndrome produces very high levels of androgens, which prevent complete feminization despite high estrogen doses.
research Case Report: Rowell Syndrome–Like Flare of Cutaneous Lupus Erythematosus Following COVID-19 Infection
COVID-19 may trigger severe skin flare-ups in people with autoimmune conditions like lupus.
research Should we consider alternative therapies to operative hysteroscopy for the treatment of Asherman syndrome?
Operative hysteroscopy is still the main treatment for Asherman syndrome, but more research is needed on post-surgery methods.