research Eph/Ephrin Signaling in Epidermal Differentiation and Disease
Eph/ephrin signaling is important for skin cell behavior and could be targeted to treat skin diseases.
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research Studying the Genetic Predisposing Factors in the Pathogenesis of Acne Vulgaris
Genetics play a role in acne, but how exactly they contribute is not fully understood.
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 Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
research An Incompletely Penetrant Novel MAFB (p.Ser56Phe) Variant in Autosomal Dominant Multicentric Carpotarsal Osteolysis Syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Germline Mutation in ATR in Autosomal-Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Familial Nonmembranous Aplasia Cutis of the Scalp
Some families have a genetic condition where they are born with irregular scalp defects.
research Coexistence of Woolly Hair and Monilethrix: A Case Study
Two sisters have rare hair disorders causing short, fragile, kinky hair.
research Eruptive Vellus Hair Cysts: A Systematic Review
Eruptive vellus hair cysts are a cosmetic skin condition, more common in young adults, with few 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 Monilethrix
Monilethrix causes short, fragile hair with no specific treatment available.
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 FOXN1 Deficient Nude Severe Combined Immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Papular Atrichia: A Case Report of an 8-Year-Old Girl
An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
research Diagnostic Approach to Low-Renin Hypertension
Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
research Retinol Dehydrogenase 12 (RDH12): Role in Vision, Retinal Disease, and Future Perspectives
The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
research Hutchinson-Gilford Progeria Syndrome: Report of 2 Cases and a Novel LMNA Mutation in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research Targeting Integrin Pathways: Mechanisms and Advances in Therapy
New therapies are being developed that target integrin pathways to treat various diseases.
research Study of Human Leukocyte Antigen in 13 Cases of Familial Frontal Fibrosing Alopecia: CYP21A2 Gene p.V281L Mutation from Congenital Adrenal Hyperplasia Linked to HLA Class I Haplotype HLA-A*33:01; B*14:02; C*08:02 as a Genetic Marker
A genetic marker linked to a type of hair loss was found in most patients studied.
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 The Medusa Head: Dermoscopic Diagnosis of Woolly Hair Syndrome
A man with Woolly Hair Syndrome had very curly, fragile hair, and doctors used a special scalp examination to diagnose him without invasive tests.
research Adams–Oliver Syndrome: New Evidence in Variable Expressivity
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
research Roux-En-Y Gastric Bypass in the Treatment of Non-Classic Congenital Adrenal Hyperplasia Due to 11-Hydroxylase Deficiency
Gastric bypass surgery improved a woman's hormonal disorder without the need for medication.
research Acne-Associated Syndromes
Acne is linked to inflammation and insulin resistance, and is associated with various syndromes that require different treatments.
research Androgen Biosynthesis and Gene Defects
Gene mutations can cause problems in male genital development.
research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research Acne as a Chronic Systemic Disease
Acne is a chronic disease linked to various systemic conditions and has significant psychological and social effects.
research Premature Adrenarche: Early Maturation of Adrenal Glands in Children
Early adrenal gland maturation in young children can be normal, but other serious conditions should be ruled out first.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.