research [Wooly hair syndrome. Clinical and microscopic study].
Woolly hair syndrome is a genetic condition causing frizzy, fragile hair.
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540-570 / 1000+ resultsresearch Cronkhite-Canada syndrome associated withmyelodysplastic syndrome
A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
research Treatment of Hair Loss in the Trichorhinophalangeal Syndrome
Hair transplantation successfully treated hair loss in a patient with Trichorhinophalangeal syndrome.
research Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
Reduced matriptase activity causes skin and hair issues in both humans and mice.
research Cellular Senescence and Aging in Myotonic Dystrophy
Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Detection of five substitution TPO mutations in Polycystic Ovary Syndrome (PCOS) and thyroid hormones disturbance patients
Five different TPO gene mutations were found in PCOS patients with thyroid hormone issues.
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 Combination of tacalcitol ointment and photodynamic therapy for the treatment of follicular mucinosis of the scalp
Using tacalcitol ointment with photodynamic therapy may effectively treat follicular mucinosis with scalp hair loss.
research A Forty-Two-Year-Old Male with Multiple Gastrointestinal Polyps, Cutaneous Manifestations, and Nail Dystrophy
The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
research From Hair-Pulling to Trichobezoars and Rapunzel Syndrome: A Comprehensive Review of Trichotillomania
Trichotillomania is an obsessive-compulsive disorder causing hair pulling, needing complex treatment to prevent serious issues.
research Parry-Romberg Syndrome Vasculopathy and Its Treatment With Botulinum Toxin
Botulinum toxin injections greatly reduced pain in Parry-Romberg syndrome.
research Trichothiodystrophy: an ultrastructural study of the hair follicle
Trichothiodystrophy causes abnormal protein deposits and distortion in hair follicles.
research Folliculotropic Mycosis Fungoides with Skewed T-cell Receptor CDR3 Motif: Suggestive of Lipid-antigen Selection?
Lipid-antigen stimulation may play a role in folliculotropic mycosis fungoides.
research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Maladies systémiques associées à la cirrhose biliaire primitive : à propos de 10 cas
Early detection and treatment of primary biliary cirrhosis and related autoimmune diseases improve outcomes.
research Cronkhite–Canada syndrome: from clinical features to treatment
There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
research Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients
Arab APS1 patients have unique and recurrent AIRE gene mutations.
research Multifocal Malignant Proliferating Trichilemmal Tumour: A Diagnostic Imitator Beyond the Scalp
Recognizing specific markers is crucial for correctly diagnosing and treating rare multifocal MPTT in males.
research Clouston’s Syndrome-A Case Report
Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
research A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?
The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
research TNF ‐inhibitor associated psoriatic alopecia: Diagnostic utility of sebaceous lobule atrophy
Shrinking of oil glands in the skin is a key sign of hair loss linked to TNF inhibitor drugs and may improve if the treatment is stopped.
research Virilism and Ectopic Expression of HSD17B5 in Mature Cystic Teratoma
A woman's mature cystic teratoma caused her virilization by producing testosterone.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
research Clinical and Trichoscopic Characteristics in a Case of Congenital Triangular Alopecia
Trichoscopic examination is crucial for diagnosing congenital triangular alopecia.
research Mogamulizumab‐induced alopecia. Multicentric case series: Clinical, trichoscopic and histological characterization
Mogamulizumab can cause hair loss, often linked to a better treatment response.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Mucinosis folicular. Reporte de un caso pediátrico
Follicular mucinosis in a 15-year-old is usually harmless but needs monitoring for possible lymphoma.