research Monilethrix of the Scalp from Almost Normal Aspect to Total Alopecia: Variable Intrafamilial Expressiveness
Monilethrix causes different levels of hair loss in family members.
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research Alopecia in a 19-Month-Old Boy
A 19-month-old boy with a rare hair disorder showed mild improvement with treatment, but his family chose gentle hair care due to limited success.
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 Trichoscopy Findings in Loose Anagen Hair Syndrome: Rectangular Granular Structures and Solitary Yellow Dots
Rectangular black granules, solitary yellow dots, and mostly single-hair follicles suggest Loose Anagen Hair Syndrome.
research The Clinical Spectrum of Parathyroid Disease
The document concludes that parathyroid diseases have a range of clinical features and outcomes, with some conditions being treatable and others having a high risk of mortality.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Hypotrichosis and Hair Loss on the Occipital Scalp
A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.
research Acquired Scalp Alopecia: A Review
Accurate diagnosis is key for treating different kinds of hair loss, and immune response variations may affect the condition and treatment results.
research Follicular and Scarring Disorders in Skin of Color: Presentation and Management
The conclusion is that better understanding and more research are needed to effectively manage follicular and scarring disorders in skin of color, with an emphasis on patient education and cultural awareness.
research Management of Hair Problems
Dr. Vera H. Price's 1979 work emphasizes the importance of accurate diagnosis and personalized treatment for hair loss.
research Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
research Nutrease Powder - Nature’s Blend of Dietary Protein Nutrients to Maintain Optimum Health in PCOS Disease
Nutrease powder, a high-protein, low-carb supplement, can help manage Polycystic Ovary Syndrome symptoms, regulate periods, improve ovulation, and restore fertility.
research Hair Anomalies in a 6-Year-Old Girl
A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
research An Early Diagnosis of Trichorhinophalangeal Syndrome Type 1: A Case Report and Review of Literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research Monilethrix: Case Report of a Rare Disease
Monilethrix causes fragile, patchy hair loss.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Hair Microscopy: An Easy Adjunct to Diagnosis of Systemic Diseases in Children
Hair microscopy is a simple and cost-effective method to help diagnose systemic diseases in children.
research Challenges Associated With the Identification of Germline Variants on Myeloid Malignancy Genomic Profiling—A Singaporean Experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
research A Novel Monilethrix Mutation in Coil 2A of KRT86 Causing Autosomal Dominant Monilethrix with Incomplete Penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
research Variable Expressivity of Syndromic BMP4-Related Eye, Brain, and Digital Anomalies: A Review of the Literature and Description of Three New Cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Keratin 17-Related Recessive Atypical Pachyonychia Congenita with Variable Hair and Tooth Anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Deficient Anterior Pituitary With Common Variable Immune Deficiency (David Syndrome): A New Case and Literature Reports
DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
research The Possible Implication of the S250C Variant of the Autoimmune Regulator Protein in a Patient with Autoimmunity and Immunodeficiency: In Silico Analysis Suggests a Molecular Pathogenic Mechanism for the Variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
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 Data from Synergistic Function of Smad4 and PTEN in Suppressing Forestomach Squamous Cell Carcinoma in the Mouse
Deleting Smad4 and PTEN genes in mice causes rapid, invasive stomach cancer.
research Becker’s Nevus Syndrome in a Pediatric Female Patient
A girl with Becker's nevus syndrome showed good improvement in breast development using spironolactone.
research Acromegaloid Facial Appearance: Case Report and Literature Review
The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.
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.