research Detection of a Novel Missense Mutation in Atrichia with Papular Lesions
Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
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research Identification of a Recurrent Nonsense Mutation in HR Gene Responsible for Atrichia with Papular Lesions in Two Kashmiri Families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Production of Ultraviolet-Light-Induced Skin Erythema in the Hairless Rat: A Comparison with the Haired Rat in Screening for Anti-Inflammatory Drugs
Hairless rats are good for testing anti-inflammatory drugs, similar to haired rats, without needing to remove fur.
research Acquired Acrodermatitis Enteropathica in a 28-Year-Old Male with Type 1 Diabetes
A 28-year-old man with type 1 diabetes had skin and hair issues due to zinc deficiency.
research Hypoparathyroidism as the Single Major Component for Decades of Autoimmune Polyglandular Syndrome Type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research Cardiometabolic Risk Factors in Women with Non-Classic Congenital Adrenal Hyperplasia
Women with non-classic congenital adrenal hyperplasia have higher risk for heart and metabolic problems.
research Risk Factors, Prevalence, and Diagnosis of Hutchinson-Gilford Syndrome with Special Reference to Case Reports
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Challenges in the Diagnosis of Simple-Virilizing Congenital Adrenal Hyperplasia: A Case Report
Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy Due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First Year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
research Hemoglobinopathy and Systemic Lupus: A Rare Association
Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
research 5-Alpha-Reductase Deficiency in a Saudi Girl
A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report
A 27-year-old with APS-1 showed improvement in symptoms after treatment.
research Acrodermatitis Dysmetabolica Secondary to Isoleucine Deficiency in Infant With Maple Syrup Urine Disease
A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
research Acquired Acrodermatitis Enteropathica in an Infant
An infant with a zinc deficiency skin disorder improved with zinc treatment.
research Sebaceous Adenitis in Akita Dog – Case Report
A 5-year-old Akita with a rare skin condition improved significantly after treatment.
research Uncombable Hair Syndrome and Beyond
Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
research Systemic Lupus Erythematosus and Vitamin D Deficiency in an Adult Sudanese Patient with Sickle Cell Trait
A patient with sickle cell trait and low vitamin D might have lupus, a rare combination that needs more attention.
research Sparse Hair on the Scalp in a 5-Year-Old Girl
A 5-year-old girl has sparse, dry, and brittle hair but is otherwise healthy.
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 Categorization of Long-Lasting Hair Changes in Patients After Hematopoietic Stem Cell Transplants
Patients often experience long-lasting changes to their hair after stem cell transplants.
research Penis Endocrinology
Hormones, especially testosterone and DHT, are key for penis development and function, and testosterone therapy may help with erectile dysfunction in those with low levels.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research Androgen Biosynthesis and Gene Defects
Gene mutations can cause problems in male genital development.
research Receptors in Trichology: Hot Spots for Hair Regeneration
Vitamin D3 and its receptor are important for hair growth, and understanding receptors could help treat hair graying and skin cancer.
research Marie-Unna Hereditary Hypotrichosis: Case Report and Review of the Literature
Marie-Unna Hereditary Hypotrichosis is a rare genetic condition causing sparse hair growth, requiring specific recognition for proper care.
research Decades of Progressive Red and Yellow Nodules
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
research Nonclassic Congenital Adrenal Hyperplasia: An Overview
Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
research Gene That Causes Woolly Hair Revealed
Mutations in the P2RY5 gene cause hereditary woolly hair.
research Abstracts
Finasteride significantly increases scalp hair and prevents hair loss in young and middle-aged men.
research Variant PADI3 in Central Centrifugal Cicatricial Alopecia
Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.