research Delayed Puberty: Diagnosis and Management of Congenital Idiopathic Hypogonadotropic Hypogonadism
A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
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390-420 / 1000+ results research Encephalocraniocutaneous Lipomatosis, A Rare Neurocutaneous Disorder: Report Of Additional Three Cases
ECCL should be considered in patients with specific skin and eye lesions.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research Sjogren-Larsson Syndrome: Case Study of a 9-Year-Old Boy
A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
research Short Anagen Syndrome: Case Series and Literature Review
Children with short anagen syndrome usually see their hair condition improve as they get older.
research Testosterone Replacement in 49,XXXXY Syndrome: Andrological, Metabolic, and Neurological Aspects
Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
research A Rare Case of Woolly Hair with Unusual Associations
The document reports a unique case of woolly hair with a combination of conditions not previously seen together.
research An Inherited Nail Dystrophy Principally Affecting the Great Toenails
The document concludes that an inherited nail condition often improves on its own, and spironolactone effectively treats acne in women.
research Hair Loss
Hair loss has many causes and treatments, and losing some hair daily is normal; proper diagnosis is key, and minoxidil can help treat it.
research Diseases of Periocular Hair
The document concludes that periocular hair disorders have various causes and treatments, and proper evaluation by specialists is important for management and prognosis.
research A Rare Cutis Verticis Gyrata Secondary to Cerebriform Intradermal Nevus: Case Report and Literature Review
A man's unusual scalp folds caused by a skin condition were treated with surgery and remained unchanged two years later.
research Topical Cetirizine and Oral Vitamin D: A Valid Treatment for Hypotrichosis Caused by Ectodermal Dysplasia
Using cetirizine on the skin and taking vitamin D can help increase hair growth in children with hair loss from ectodermal dysplasia.
research Breast Embryology, Anatomy, and Physiology
The document explains breast development, common breast conditions, and their treatments.
research A Mutation in the Type II Hair Keratin KRT86 Gene in a Han Family with Monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
research Syphilis: Today
Syphilis is becoming more common and remains a major health problem due to challenges in prevention and treatment.
research Pallister-Killian Syndrome: A Case Study
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research Omenn Syndrome in a 10-Month-Old Male With Athymia and VACTERL Association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Acquired Acrodermatitis Enteropathica in an Infant
An infant with a zinc deficiency skin disorder improved with zinc treatment.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research Paint Brush Hair: A Case Report
Shaving and avoiding brushing improved the patient's beard hair condition.
research Case Report: Disorder of Sex Development 46, XY with Proximal Hypospadias in a 10-Year-Old Twin Boy
A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.
research SUN-287: A Case of Ectopic Neurohypophysis
The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
research Hypothyroidism Versus Hyperthyroidism in Two Cats: The Culprit for Miliary Dermatitis Versus Growth Retardation
One cat with low thyroid hormone had growth issues, and another with high thyroid hormone had skin problems; both got better with treatment.
research Application of Mesenchymal Stem Cells in Pediatrics
Mesenchymal stem cells are effective and safe for treating various diseases in children.
research Understanding Cellular and Molecular Responses in the Treatment of Pediatric Lymphatic Anomalies
Sirolimus and propranolol may reduce abnormal cell growth and improve lymphatic malformations in children.
research Verrucous Hemangioma Leg: A Challenging Birthmark
A boy with a rare birthmark called verrucous hemangioma needed careful timing for surgery due to its size and depth.
research Plastic Surgical Considerations in Pediatric Dermatologic Abnormalities
Treat pediatric skin issues with accurate diagnosis, multidisciplinary team, and various treatment options.
research Vitamin D and Human Health: Lessons from Vitamin D Receptor Null Mice
Mice without the vitamin D receptor have bone issues and other health problems, suggesting vitamin D is important for preventing various diseases in humans.
research Molecular and functional aspects of the hairless (hr) gene in laboratory rodents and humans
The document discussed the hairless (hr) gene in laboratory rodents and humans, highlighting its role in skin physiology and hair follicle biology. Although hairless and rhino mouse mutants were extensively used to study skin-related topics, the primary cellular defect of hairlessness was often overlooked. The identification of the human homolog of the hr gene on Chromosome 8p12 linked it to a congenital hair disorder in humans, similar to hairless mice. Mutations in the hr gene in mice served as models for understanding its function and the pathophysiology of related human disorders. The document reviewed the structure, expression patterns, and mutations of the hr gene, as well as associated pathologies, reproductive and immunological defects, and susceptibility to dioxin toxicity. It speculated on the potential functions of the hr gene product in skin and hair follicle biology.
research Dermatoscopy of Hair Shaft Disorders
Dermatoscopy is a useful tool for diagnosing hair disorders and can help choose samples for more detailed analysis.