research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
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research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
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 Nonclassic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Pathophysiology, Diagnosis, and Treatment
The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.
research Nonclassic Congenital Adrenal Hyperplasia: Pathophysiology, Genetics, and Management
Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
research Methotrexate for Generalized Pustular Psoriasis in a 2-Year-Old Child
Methotrexate effectively treated a 2-year-old's generalized pustular psoriasis without side effects.
research Identification of a Novel PNPLA1 Mutation in a Spanish Family with Autosomal Recessive Congenital Ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research Advances in the Treatment of Autosomal Recessive Congenital Ichthyosis: A Look Towards the Repositioning of Drugs
Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
research Hereditary, Congenital, And Acquired Alopecias
Alopecia in animals can be hereditary, congenital, or acquired, with treatments and outcomes varying widely.
research Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Acquired Generalized Hypertrichosis Due to Diazoxide
A 6-year-old boy developed excessive hair growth after taking diazoxide for low blood sugar.
research NIPAL4 Deletion Identified in an American Bully with Autosomal Recessive Congenital Ichthyosis and Response to Topical Therapy
An American Bully with a genetic skin condition improved significantly with specific topical treatments.
research A Syndrome of Congenital Ichthyosis, Mental Retardation, Myopathy, and Anemia in Dizygotic Twin Sisters
The twins' condition is unique and doesn't match any known syndromes.
research Atrichia Caused by Mutations in the Vitamin D Receptor Gene Is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene
Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
A specific gene mutation causes congenital hair loss.
research Premature Termination of Hair Follicle Morphogenesis and Accelerated Hair Follicle Cycling in Iasi Congenital Atrichia (fzica) Mice Points to Fuzzy as a Key Element of Hair Cycle Control
The fuzzy gene is crucial for controlling hair growth cycles.
research Ingestion of Topical Steroid Triggering Pustular Psoriasis?
Accidentally eating a topical steroid may rarely cause acute generalized pustular psoriasis.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Unruly Hair
The document concludes that unruly hair can be congenital or acquired, often lacks specific treatments, and can be managed with oils and short hairstyles.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research Hypothyroidism in Dogs
Hypothyroidism in dogs is usually caused by immune system issues or gland atrophy, affects middle-aged purebreds most, and is treatable with medication.
research Generalized Woolly Hair: Case Report and Literature Review
Woolly hair is a rare genetic condition with no effective treatments.
research Disorders of Keratinization
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
research The Clinical Evaluation of Hirsutism
Hirsutism is excessive hair growth in women often caused by polycystic ovarian syndrome, and identifying the cause is important for managing associated health risks.
research Hair Follicles and Their Role in Skin Health
Hair follicles are essential for skin health, aiding in hair growth, wound healing, and immune function.
research Androgen Excess and Post-Reproductive Health
Excess male hormones in postmenopausal women can cause health issues and increase the risk of heart disease and diabetes; treatment depends on the cause.
research Sequence And Structure Based Assessment Of Non-Synonymous SNPs In Hypertrichosis Universalis
Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
research Successful Use of Topical Minoxidil in the Treatment of Hypotrichosis Associated with Desmoplakin Mutations
Topical minoxidil helped an 8-year-old boy with a genetic hair disorder grow hair.
research Disorders of Hair in Children
The document concludes that accurate diagnosis and understanding the type of hair disorder are crucial for treating hair loss in children.
research Structural Abnormalities of the Hair Shaft
The document concludes that understanding hair structure is key to diagnosing hair abnormalities and recommends gentle hair care for management.