research MON-LB044 Bilateral Ovarian Hyperthecosis: A Benign and Unusual Cause of Postmenopausal Hirsutism
Bilateral ovarian hyperthecosis is a rare but treatable cause of increased facial hair in postmenopausal women.
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480-510 / 1000+ resultsresearch A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research Association of insulin resistance with polycystic ovary syndrome phenotypes and patients’ characteristics: a cross-sectional study in Iran
Most women with PCOS have insulin resistance, especially those with phenotype B.
research Expanding the Cutaneous Spectrum of Nicolaides‑Baraitser Syndrome: Eczema and Generalized Hair Loss
Nicolaides-Baraitser syndrome may cause eczema and hair loss, needing early skin care and treatment.
research Challenges in diagnosis and treatment of Cushing disease in a 12-year-old boy
The boy's Cushing's Disease was treated successfully, but he developed growth hormone deficiency.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research Late presentation of biotinidase deficiency with acute visual loss and gait disturbance
Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
research Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families
Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
research Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.
The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
research Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
research Acrodermatitis dysmetabolica in an infant with maple syrup urine disease
Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research Hidradenitis Suppurativa: From Physiopathologies to Targeted Therapeutics
Hidradenitis suppurativa is a chronic skin disorder linked to genetics, lifestyle, and immune issues, treatable with medication and sometimes surgery.
research LB918 Analysis of National Inpatient Sample to characterize admissions for pediatric patients with dystrophic epidermolysis bullosa
Pediatric patients with dystrophic epidermolysis bullosa face more hospital admissions, procedures, and complications than others.
research Biotinidase deficiency: a survey of 10 cases.
Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
research Immune response involving the bulge region in addition to telogen conversion contributes to hair loss in a case of atypical drug-induced hypersensitivity syndrome
Hair loss in a drug reaction case involved both a common shedding phase and an immune attack on hair follicle stem cells.
research A Disease-Modifying Approach for Advanced Hidradenitis Suppurativa (Regimen with Metformin, Liraglutide, Dapsone, and Finasteride): A Case Report
Combination therapy helped patient with advanced Hidradenitis Suppurativa achieve remission.
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 1436 Lesional skin histology in drug-induced hypersensitivity syndrome: A single center 10-year experience of 37 patients
Interface dermatitis is the most common skin change in drug-induced hypersensitivity syndrome.
research Acne as a chronic systemic disease
Acne is a chronic disease linked to various systemic conditions and has significant psychological and social effects.
research The prevalence of idiopathic hirsutism and polycystic ovary syndrome in the Tehran Lipid and Glucose Study
About 13% of women had idiopathic hirsutism and 8.5% had polycystic ovary syndrome in a group of Iranian women.
research Biotinidase Enzyme Deficiency ( Case Report )
A rare biotin deficiency in an Iraqi family caused severe symptoms but was successfully treated with lifelong biotin.
research LB1682 Association of inflammatory and pigmentary disorders with alcohol use disorder and psychiatric illness
People with certain skin disorders are more likely to have alcohol problems, especially if they also have mental health issues like depression and anxiety.
research Recurrent bacterial vaginosis and Netherton's syndrome
Netherton's syndrome can cause frequent bacterial infections beyond just skin issues.
research Epicardial fat thickness in children with classic congenital adrenal hyperplasia
Children with classic congenital adrenal hyperplasia have thicker heart fat and more heart and blood vessel risk factors, especially if their condition is not well-controlled.
research Open questions in hidradenitis suppurativa research: a hair biologist's perspective
The conclusion suggests that early signs of hidradenitis suppurativa may start in the hair follicle, with genetic and immune factors playing a role, highlighting the need for more research on the hair follicle's immune system.
research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research Das Trichorhinophalangealsyndrom
Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
research Susceptibility variants on chromosome 7p21.1 suggest HDAC9 as a new candidate gene for male-pattern baldness
A gene called HDAC9 might be a new factor in male-pattern baldness.
research Increased PHGDH expression promotes aberrant melanin accumulation
Higher PHGDH levels cause unusual melanin buildup in hair follicles.