research Monilethrix, a rare inherited hair shaft disorder in siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
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450-480 / 1000+ results research Whitaker syndrome: A case report of autoimmune polyendocrine syndrome type 1 with dilated cardiomyopathy
Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Morphological study in a mechanism of congenital pili torti formation: Björnstad syndrome
Björnstad syndrome causes twisted hair from birth.
research A 9-month-old infant with severe scalp dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
research KERATOSIS FOLLICULARIS WITH UNUSUAL INVOLVEMENT OF THE SCALP
A rare case of severe scalp hair loss and nail issues in keratosis follicularis was observed.
research Case Report: 8 years old boy with neurofibromatosis type one and Alopecia from KING ABDULAZIZ MEDICAL CITY OF THE NATIONAL GUARD. Saudi Arabia
An 8-year-old boy with neurofibromatosis type one also has rare hair and eye disorders.
research Clinical Case Notes. Intraorbital ophthalmic artery aneurysms
Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
research CUTANEOUS MASTOCYTOSIS IN CHILDREN: AN INDIAN EXPERIENCE
Fox Fordyce disease can occur in prepubertal girls and may be underdiagnosed.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research An observational analysis of erythromelanosis follicularis faciei et colli
EFFC might be common but underreported.
research Frontal fibrosing alopecia in men: A multicenter study of 39 patients
Most men with Frontal fibrosing alopecia also lose facial hair and the condition may be linked to hormone levels and sunscreen use.
research Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder
Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
research Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient
The study found genetic differences related to hair development that may explain hair loss in a patient with Trichorhinophalangeal syndrome type I.
research The increasing incidence of frontal fibrosing alopecia. In search of triggering factors
Various potential triggers may be causing the rise in frontal fibrosing alopecia, and avoiding these could help stop the disease's increase.
research Frontal Fibrosing Alopecia in Men: A Review of the Literature
Frontal fibrosing alopecia in men is often misdiagnosed and needs better diagnostic criteria and treatments.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research The “Dorian Gray Syndrome”: psychodynamic need for hair growth restorers and other “fountains of youth”
People obsessed with looking young may need therapy to address deeper issues.
research Frontal fibrosing alopecia in an A frican man
Frontal fibrosing alopecia can affect African men and may be underdiagnosed.
research Moniletrix. Observación de esta infrecuente displasia pilosa en dos hermanos. Reporte clínico y dermatoscópico
Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.
research Clinical features and treatment outcomes of frontal fibrosing alopecia in men
FFA in men shows unique features and treatment results vary widely.
research Loose anagen syndrome in one identical twin girl
One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
research Unusual Presentation of Rapunzel Syndrome in an 8-Year-Old Girl
Rapunzel syndrome can show vague symptoms and needs long-term psychiatric care to prevent recurrence.
research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research Unilateral heterochromia of scalp hair with adjacent hypomelanotic skin lesions
The boy's hair and skin color differences are due to a pigmentation disorder.
research Familial frontal fibrosing alopecia in two male families
Frontal fibrosing alopecia has occurred in two related male families.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels!
The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.