research A girl with loose anagen hair syndrome and concurrent uncombable hair syndrome
A girl had two rare hair conditions that helped understand their overlap.
Search
for
Sort by
Research
480-510 / 1000+ resultsresearch Linear immunoglobulin A/immunoglobulin G bullous dermatosis associated with Vogt-Koyanagi-Harada disease
A man had two rare autoimmune diseases that might be connected.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Ovarian Leydig cell tumor in a post-menopausal patient with severe hyperandrogenism
An 81-year-old woman's severe male hormone symptoms were caused by an ovarian tumor, which was treated with surgery.
research Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research Erlotinib-induced trichomegaly of eyelashes in lung cancer treatment: Epidermal growth factor receptor inhibitor side effect
Erlotinib can cause excessive eyelash growth.
research Evaluation of hair structural abnormalities in children with different neurological diseases
Hair examination helps diagnose rare neurological diseases in children.
research Gemcitabine combined with either pemetrexed or paclitaxel in the treatment of advanced non-small cell lung cancer
Combining gemcitabine with paclitaxel is more effective than with pemetrexed for advanced lung cancer.
research Graham Little-Piccardi-Lassueur syndrome associated with androgen insensitivity syndrome (testicular feminization)
A woman had both Graham Little-Piccardi-Lassueur syndrome, causing hair loss, and complete androgen insensitivity syndrome, making her genetically male but physically female. This suggests androgens don't affect the hair loss condition.
research Reporting on Adverse Clinical Events
Different medications can cause serious side effects in some people.
research Social isolation alters GABAA receptors plasticity and function: effect of voluntary consumption of ethanol
Social isolation changes brain receptors and makes ethanol more impactful.
research Epidermal Nevi
Epidermal nevi are skin cell clusters linked to various syndromes.
research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Valproic Acid–induced Hair‐texture Changes in a White Woman
Valproic acid can cause reversible hair curling and persistent hair thinning.
research A case of encephalocraniocutaneous lipomatosis
The document reports a rare case of ECCL with a new association with optic disc colobomas.
research P378: Expanding the phenotype of hyper-IgE syndrome: Heterozygous VUS in IL6ST with elevated serum IgE and isolated abscesses
A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
research Timed exposure 10,600 nm CO2 laser drilling in various benign dermal tumours
CO₂ laser treatment is fast and effective for some benign skin tumors with minimal side effects.
research Adverse cutaneous effects of psychotropic medications
Psychotropic medications can cause skin problems, including serious conditions, and patients should be monitored closely.
research Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics
Pegvaliase effectively reduces blood phenylalanine levels in most PKU patients, but requires personalized plans and good communication to manage side effects.
research Severe Hyperandrogenism in A Premenopausal Woman With An Imaging-Negative Leydig Cell Tumor
A woman's severe male hormone excess was caused by a small, hard-to-find ovarian tumor.
research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research Acneiform Rash Caused by an Unlikely Drug: Topiramate
A man got a rare rash from the drug topiramate, which went away after he stopped taking it.
research Netherton Syndrome Associated with Growth Hormone Deficiency
Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
research A Virilizing Malignant Steroid Cell Tumor-Leydig Cell Subtype in a 24-Year-Old Palestinian Female with Challenging Histopathological and Biochemical Features: A Case Report
A young woman had a rare, aggressive ovarian tumor that was hard to diagnose and treat, leading to disease progression despite treatment.
research Diagnosis of an indistinct Leydig cell tumor by positron emission tomography-computed tomography
A PET-CT scan successfully located a hard-to-find Leydig cell tumor in a woman with hormonal symptoms.
research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research Wording Creates Misunderstanding
A drug helped quickly reduce a movement disorder, experts debated the severity of Raynaud phenomenon, and rapid weight loss was linked to temporary hair loss with good recovery.
research Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.