research A Scandinavian Case of Skin Fragility, Alopecia, and Cardiomyopathy Caused by DSP Mutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
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research Gene Detection in a Family With Monilethrix and Treatment With 5% Topical Minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research Hair Shaft Abnormalities: Clues to Diagnosis and Treatment
Hair problems can be caused by genetics or the environment, and treatment should focus on the cause and reducing hair damage.
research Adult Patients with Aphallia: Were They Fertile?
The document does not determine if adults with aphallia are fertile.
research Hair Shaft Dysplasias
Hair shaft dysplasias are abnormal hair conditions that can be inherited or acquired and may signal other health issues, with limited treatment options available.
research Hemiagenesis of the Thyroid Gland Detected by Coincidence: What Is the Clinical Relevance?
THA is a rare condition with no significant clinical consequences if thyroid function is normal.
research Hepatitis C-Related Mixed Type Vitiligo in a Patient with Ivemark Syndrome
A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
research An Unusual Case of Quadruple Polyorchidism in a Human Cadaver Mimicking Bilateral Lipoma
A man had four testicles, two of which were outside the scrotum and looked like fatty lumps.
research Hair Loss in Children: Etiologies and Treatment
Early treatment of children's hair loss, which can be caused by various factors, is important due to its emotional impact.
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.
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 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 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 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.