research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
Search
for
Sort by
Research
330-360 / 1000+ results 
research Central Diabetes Insipidus and Hypothalamic Type of Hypopituitarism Associated with Atypical Location of Rathke's Cleft Cyst
A Rathke's cleft cyst caused hormonal imbalances and symptoms in a 68-year-old woman.
research NEW YORK ACADEMY OF MEDICINE, SECTION ON DERMATOLOGY AND SYPHILIS
An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
research Bilateral conjunctival lesions in Melkersson-Rosenthal syndrome
research A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)
Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
research Delayed granulomatous eruption of the nose associated with ruxolitinib
Ruxolitinib can cause a delayed skin reaction on the nose.
research Challenges in diagnosing ovarian sertoli-leydig cell tumors: A Peruvian case series
Diagnosing Sertoli-Leydig cell tumors is challenging due to their unusual symptoms and can occur at any age.
research MON-194 A Case Of Sertoli Cell Tumor In A Patient With Familial Partial Lipodystrophy Type 2
A rare ovarian tumor was found in a young woman with a genetic fat disorder.
research An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient
A Turkish woman has a hair condition caused by a LIPH gene mutation.
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 Dermatological concerns for women and girls with turner syndrome
Early dermatological referrals are important for women and girls with Turner syndrome to improve life quality.
research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
research 7745 Hirsutism in young girls: Beyond PCOS
Hirsutism in young girls can have various causes beyond PCOS, so diagnoses should be reconsidered if treatments don't work.
research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
research Acquired hypertrichosis lanuginosa: Case report and review of the literature
A woman with breast cancer developed a rare condition causing excessive fine hair growth on her face and body.
research Cronkhite-Canada Syndrome: A Case Report and Literature Review of Gastrointestinal Polyposis Syndrome
Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.
research Cronkhite-Canada Syndrome: an unusual finding of gastro-intestinal adenomatous polyps in a syndrome characterized by hamartomatous polyps
Cronkhite-Canada syndrome can sometimes show unusual colonic adenomatous polyps.
research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
research Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure
Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Syringolymphoid hyperplasia with alopecia and anhidrosis in a 12‐year‐old boy: a case report from rural south India
A 12-year-old boy in rural south India had a rare skin condition causing hair loss and inability to sweat.
research Loose Anagen Hair Syndrome in an Indian Child with Trichoscopic Features
Loose anagen hair syndrome in children often resolves on its own.
research Trichorrhexis Nodosa Secondary to Argininosuccinicaciduria
Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
research Ghrelin levels are suppressed and show a blunted response to oral glucose in women with polycystic ovary syndrome.
Women with PCOS have lower ghrelin levels and a weaker response to sugar, which might affect their feeling of fullness and lead to overeating.
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 Rapunzel Syndrome: A Rare Cause of Biliary Obstruction
Trichobezoars can cause serious health issues like biliary obstruction, and treatment includes surgery and therapy to prevent recurrence.
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 TRPS1 haploinsufficiency results in increased STAT3 and SOX9 mRNA expression in hair follicles in trichorhinophalangeal syndrome
Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
research Localized syringolymphoid hyperplasia with alopecia and anhidrosis
SLHA can be hard to diagnose and needs teamwork between specialists.
research Polycystic Ovarian Syndrome in Taiwanese Women
Obesity is a major risk factor for insulin resistance in Taiwanese women with PCOS, which is also an independent risk factor for metabolic syndrome.