research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
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720-750 / 1000+ resultsresearch Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13
research PS6:125 Systemic lupus erythematosus diagnosis is earlier in males compared to females
Systemic lupus erythematosus is diagnosed earlier in males than females.
research Molecular basis of androgen insensitivity
Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.
research Electrophoretic variation of hair proteins.
Most people have similar hair protein patterns, but a rare variant was found in two women.
research What is your diagnosis?
The woman likely has a hormonal imbalance causing excessive hair growth.
research C19and C215β/5αMetabolite Ratios in Subjects Treated with the 5α-Reductase Inhibitor Finasteride: Comparison of Male Pseudohermaphrodites with Inherited 5α-Reductase Deficiency*
Finasteride may treat baldness but less effective for those with 5α-reductase deficiency.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Common Variants in the Sex Hormone-Binding Globulin (SHBG) Gene Influence SHBG Levels in Women with Polycystic Ovary Syndrome
Certain SHBG gene variants, like rs727428, are linked to higher testosterone levels in women with PCOS.
research Late presentation of myotonic dystrophy
Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
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 Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
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 Inheritance of Some Electrophoretic Phenotypes of Human Hair
Human hair protein patterns are inherited genetically.
research Postmenopausal Hyperandrogenism Associated With Synchronous Ovarian Brenner Tumor, Bilateral Leydig Cell Tumor, and Adrenal Mass
A thorough diagnostic process and teamwork are crucial for managing complex hyperandrogenism in postmenopausal women.
research Twenty nail onychomadesis: An unusual finding in Cronkhite–Canada syndrome
A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
research Second-to-fourth digit ratio and seborrheic dermatitis in males: a cross-sectional study*
Finger length ratios might predict risk for skin condition in males.
research Polymorphisms in androgen and estrogen receptor genes: effects on male aging
Changes in testosterone and estrogen receptor genes can affect how men age, influencing body fat, hair patterns, and possibly leading to skin disorders.
research Female pattern hair loss: Clinico-laboratory findings and trichoscopy depending on disease severity
Genetics affect early female hair loss, severity depends on duration, and low ferritin levels not significant.
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 Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
research Folliculotropic mycosis fungoides complicated by eosinophilia: a case report
A man's skin condition was misdiagnosed and later identified as a rare type of skin cancer, which did not improve with treatment.
research Male Pattern Baldness
Male pattern baldness is often genetic and linked to a hormone, with treatments like finasteride and minoxidil being effective for some men.
research A cross-sectional study of male balding patterns in people of color
The study found different balding patterns in men of color.
research BH15 Nonsyndromic hypotrichosis: a rare case of congenital hypotrichosis 15 and management with minoxidil
Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
research Presence of hyperandrogenemia in cases evaluated due to menstrual irregularity, the effect of clinical and/or biochemical hyperandrogenemia on polycystic ovary syndrome
Elevated testosterone, DHEA-S, and FAI help identify PCOS risk in menstrual irregularities.
research Becker's Nevus Syndrome
Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
research Cytokeratins as Markers of Follicular Differentiation
TB and BCC tumors show similar follicular differentiation patterns.
research Werner′s syndrome
Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.