research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
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510-540 / 1000+ results research SAT-293 Novel Presentation Of A Heterozygous INSR Mutation And Markedly Elevated Testosterone Levels In A Pediatric Patient, A Case Report.
A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
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 Abstracts from the 2009 Annual Meeting of the Society for Pediatric Dermatology
UVB is good for a skin condition in Asian kids, a lotion works for head lice, a drug helps with a skin blistering disorder, a foam reduces itchiness in skin inflammation, birthmarks can be more widespread, and criteria for a neurocutaneous disorder were agreed upon.
research Pseudopelade of Brocq: a clinico-therapeutic challenge!
Pseudopelade of Brocq is hard to diagnose and treat, with limited effective options.
research Impending central retinal vein occlusion and granulomatous uveitis in a patient with Satoyoshi syndrome
Satoyoshi syndrome can cause eye problems like uveitis and retinal vein issues.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Effect of metabolic syndrome on treatment outcome of lower urinary tract symptoms in males due to benign prostatic hyperplasia
Metabolic syndrome worsens treatment outcomes for urinary symptoms in men with enlarged prostate.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research The spectrum of hair loss in patients with mycosis fungoides and Sézary syndrome
Some patients with mycosis fungoides or Sézary syndrome experience hair loss, which may be similar to alopecia areata or linked to skin lesions, possibly due to abnormal T cells, and bexarotene can help treat it.
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 Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
research IMMUNOLOGICAL AND GENETIC ASPECTS OF HEREDITARY ANTIBODY DEFICIENCIES
Children with frequent severe infections and low antibodies should be checked for immune deficiencies.
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 BH10 Nailing the diagnosis
Consider amyloidosis in patients with specific nail changes and check for systemic issues.
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 Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man
An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
research Hyperandrogenism-Insulin Resistance-Acanthosis Nigricans Syndrome
The document concludes that HAIR-AN syndrome should be considered when a patient shows severe hyperandrogenism and insulin resistance after excluding tumors.
research Selective complete Clq deficiency associated with systemic lupus erythematosus.
Clq deficiency is linked to systemic lupus erythematosus symptoms.
research Prevalence of metabolic syndrome and its components among men with and without clinical benign prostatic hyperplasia: a large, cross-sectional, UK epidemiological study
Men with benign prostatic hyperplasia are more likely to have metabolic syndrome than those without it.
research Shock: A possible presenting manifestation of autoimmune polyendocrine syndrome type II
Shock can be an early sign of Autoimmune Polyendocrine Syndrome Type II.
research Risperidone
A man had a severe allergic reaction to sulfasalazine, with symptoms improving after treatment and follow-up.
research Navigating Rhupus Complexity
Rhupus is a complex syndrome that combines rheumatoid arthritis and lupus, making diagnosis challenging.
research Acquired constriction ring syndrome as a cause of inconsolable cry in a child: a case report
A hair tightly wrapped around a toddler's toe caused severe crying and was treated by surgery.
research This Month in the Journal
The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
research Specificity of anti-SSB as a diagnostic marker for the classification of systemic lupus erythematosus
Anti-SSB antibodies are useful for diagnosing systemic lupus erythematosus and are linked to specific symptoms.
research Philological Obfuscation
The author believes that giving medical conditions official names can sometimes overwhelm or scare patients.
research Cronkhite–Canada syndrome: from clinical features to treatment
There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
research Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
PAON shows skin patterns due to genetic mosaicism.
research Polyglandular autoimmune syndrome type 4 with GAD antibody and dystonia
Dystonia may be part of PAS-4 and linked to immune issues.