research Molecular, Immunological, Enzymatic and Biochemical Studies of Coproporphyrinogen Oxidase Deficiency in a Family with Hereditary Coproporphyria
A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
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30 / 1000+ resultsresearch 66-Year-Old Woman With Painless Vesicular Lesions
A 66-year-old woman with skin lesions and other symptoms improved after treatment for porphyria cutanea tarda.
research 66-Year-Old Woman With Painless Vesicular Lesions
A woman was diagnosed with porphyria cutanea tarda and improved with phlebotomy and lifestyle changes.
research Index
The document is a detailed guide on skin conditions and treatments for dermatologists.
research Effects of Visible Light on the Skin
Visible light can damage skin and most sunscreens don't block it well; more research is needed on its effects and protection methods.
research Cutaneous Manifestations of Anabolic-Androgenic Steroid Use in Athletes
Using anabolic-androgenic steroids can cause skin problems like acne and hair loss in athletes.
research Cutaneous Manifestations of Metabolic Diseases: Uncommon Presentations
Some skin problems can be signs of diabetes or other metabolic diseases and recognizing them can help diagnose and treat these diseases early.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research General Dermatology: Comprehensive Overview of Dermatological Conditions
The document explains various skin conditions and their treatments.
research Contraception And The Skin
Birth control pills can cause skin issues but may help with acne and hirsutism, and choosing the right type can minimize side effects.
research Congenital and Hereditary Skin Diseases in Bovines
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
research Protoporphyrin IX: The Good, the Bad, and the Ugly
Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
research Familial and Sporadic Porphyria Cutanea Tarda
Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.
research Hair Darkening in Porphyria Cutanea Tarda
Two patients with porphyria cutanea tarda experienced their grey hair turning dark again.
research Light Emitting Diodes Technology-Based Photobiomodulation Therapy for Dermatology and Aesthetics: Recent Applications, Challenges, and Perspectives
LED light therapy is effective for skin and hair treatments but requires careful use to minimize risks.
research Sex Hormones and Related Compounds, Including Hormonal Contraceptives
Exposure to certain sex hormones can increase health risks, while some hormone therapies may offer benefits for specific conditions.
research APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex
A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
research Mutations in the Vitamin D Receptor and Hereditary Vitamin D-Resistant Rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research Loose Anagen Hair as a Cause of Hereditary Hair Loss in Children
Loose Anagen Hair Syndrome is a hereditary condition causing hair loss in children due to abnormal hair follicles.
research Topical Minoxidil Therapy in Hereditary Androgenetic Alopecia
Minoxidil applied twice daily can help regrow hair in some people with hereditary baldness, with no serious side effects.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
A specific gene mutation causes vitamin D-resistant rickets and hair loss.
research Hereditary Vitamin D-Resistant Rickets (HVDRR) Owing to a Heterozygous Mutation in the Vitamin D Receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research A Distinct Gene Close to the Hairless Locus on Chromosome 8p Underlies Hereditary Marie Unna Type Hypotrichosis in a German Family
A different gene near the hairless gene on chromosome 8p21 causes a rare hair loss condition in a German family.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.
research A Humanized Mouse Model of Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets Without Alopecia
Researchers created a mouse model of a type of rickets that does not cause hair loss.
research Expanding Phenotype of Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis Caused by FAM111B Mutations: Report of an Additional Family Raising the Question of Cancer Predisposition and a Short Review of Early-Onset Poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research A Comparative Study of a New Food Supplement, Viviscal, with Fish Extract for the Treatment of Hereditary Androgenic Alopecia in Young Males
ViviScal®, a food supplement, was found to be highly effective in treating hereditary hair loss in young males, while fish extract showed no impact.
research Marie-Unna Hereditary Hypotrichosis: Case Report and Review of the Literature
An 18-year-old girl was diagnosed with a rare hereditary hair loss condition, despite no family history.
research Clinical and Genetic Findings in a Chinese Family with VDR-Associated Hereditary Vitamin D-Resistant Rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.