research ASSOCIATION OF SYSTEMIC LUPUS ERYTHEMATOSUS AND CHRONIC GRANULOMATOUS DISEASE IN ADULTS: REPORT OF 2 CASES
Chronic granulomatous disease may be linked to developing systemic lupus erythematosus.
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120-150 / 1000+ results research Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy
Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Androgenic alopecia and its association with metabolic syndrome
Early hair loss may signal a risk for metabolic syndrome and related health issues.
research Polyglandular autoimmune syndrome type III with a prevalence of cutaneous features
PAS III can cause multiple autoimmune diseases with noticeable skin issues.
research Netherton's Syndrome.
A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research 원저 : 안드로겐 탈모증의 임상적 고찰(제7보)
The conclusion is that more women in their forties are getting AGA and stress is linked to AGA in both men and women.
research SAT-214 Satoyoshi Syndrome: A Rare Cause of Premature Ovarian Failure
Satoyoshi syndrome can occur without causing premature ovarian failure.
research Parry-Romberg Syndrome: A Rare Case with Diagnostic Challenges and Orthodontic Implications
Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
research Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report
A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
research Graft versus host disease–like: A new paraneoplastic syndrome
A woman with thymoma developed a rare chronic condition similar to graft versus host disease after surgery.
research Diagnostic dilemma: Multiple Autoimmune Syndrome versus incomplete Graham-Little-Piccardi-Lassueur Syndrome overlap mixed connective tissue disease
The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
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 Sjogren-Larsson Syndrome
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene
Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
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 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 Gastrointestinal polyposis with protein-losing enteropathy, abnormal skin pigmentation and loss of hair and nails (Cronkhite-Canada syndrome)
Cronkhite-Canada Syndrome often leads to death within 6-18 months.
research Chronic Diarrhea and Weight Loss in a 27-Year-Old: Highlighting Collagenous Gastritis as a Rarely Encountered Entity
Collagenous gastritis is a rare condition causing chronic diarrhea and weight loss, often misdiagnosed due to nonspecific symptoms.
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 Rapunzel syndrome: a rare form of trichobezoar in the stomach with some extension into the small intestine
An 8-year-old girl with Rapunzel syndrome had a hairball removed from her stomach and intestines and recovered well after surgery.
research Lymphomatoid granulomatosis
Early diagnosis and aggressive treatment are crucial for better outcomes in lymphomatoid granulomatosis.
research Rothmund Thomson syndrome with late onset and good preventive control of non-melanoma cancer with acitretin: case report
Acitretin effectively prevented skin cancer in a patient with late-onset Rothmund-Thomson syndrome.
research Precocious puberty: the unlikely herald of Familial adenomatous polyposis in a young girl
Precocious puberty can signal familial adenomatous polyposis.
research Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia
Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
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 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 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.