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.
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research Alopecia in Cronkhite-Canada syndrome
Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.
research Central nervous system involvement in autoimmune polyglandular syndrome
Autoimmune polyglandular syndrome can cause temporary brain issues that may improve on their own.
research An adolescent girl presenting with primary amenorrhea: A case report of complete androgen insensitivity syndrome
A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
research Autoimmune gastritis is common in patients with iron deficiency – Non-invasive evaluation of iron deficiency aside guideline recommendations
Autoimmune gastritis is a common cause of iron deficiency and should be included in diagnostic guidelines.
research Turner's syndrome associated with psoriasis and alopecia areata
Turner's syndrome may be linked to autoimmune diseases like psoriasis and alopecia areata, needing comprehensive care.
research TRICHOTILLOMANIA WITH GIANT GASTRIC TRICHOBEZOAR IN A FEMALE CHILD: A CASE REPORT
An 11-year-old girl with Trichotillomania developed a large hairball in her stomach, treated with medication, therapy, and family education.
research A Case of Cronkhite-Canada Syndrome Involving the Entire Gastrointestinal Tract
Prednisolone and Bactrim improved symptoms in a woman with Cronkhite-Canada syndrome.
research Muir-torre syndrome in two families in Leicestershire, United Kingdom
Recognizing minor skin lesions can help identify serious cancer syndromes.
research Das Trichorhinophalangealsyndrom
Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
research Polyglandular autoimmune syndrome type III with a prevalence of cutaneous features
PAS III can cause multiple autoimmune diseases with noticeable skin issues.
research Pediatric androgenetic alopecia: a retrospective review of clinical characteristics, hormonal assays and metabolic syndrome risk factors in 23 patients
Androgenetic alopecia in teens is linked to obesity and other metabolic risks, needing early diagnosis and management.
research Association of Androgenetic Alopecia with Metabolic Syndrome
People with androgenetic alopecia are more likely to have metabolic syndrome.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
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 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 Tangled
A girl with Rapunzel syndrome had surgery to remove a hairball, and addressing mental health is important to prevent it from happening again.
research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
research Type 3 autoimmune polyendocrine syndrome (APS) diagnosed in an 87-year-old patient with a concomitant chronic autoimmune urticaria
An 87-year-old woman was diagnosed with type 3 autoimmune polyendocrine syndrome and had multiple autoimmune issues.
research Exome analysis for Cronkhite-Canada syndrome: A case report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
research Severe androgenetic alopecia as a proxy of metabolic syndrome in male psoriatic patients older than 59 years
Severe hair loss links to metabolic issues in older men with psoriasis.
research Cutaneous Granular Cell Tumor with Overlying Hypertrichosis in an Adult: A Rare Case Report
A rare skin tumor with extra hair growth was found and safely removed from a 27-year-old woman.
research Androgenetic alopecia and metabolic syndrome: A cross-sectional study in Northeast India
Androgenetic alopecia may predict metabolic syndrome, so routine screening is recommended to prevent cardiovascular issues.
research Precocious puberty: the unlikely herald of Familial adenomatous polyposis in a young girl
Precocious puberty can signal familial adenomatous polyposis.
research Cutaneous Manifestations of Mucopolysaccharidoses
People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
research Trichorhinophalangeal Syndrome
Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
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 Delayed Diagnosis of Familial Adenomatous Polyposis-related Colon Cancer in an Adolescent with Coexisting Eating Disorder: A Case Report
Early diagnosis of colorectal cancer in young patients with certain symptoms is crucial for better outcomes.