research Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family
Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
Search
for
Sort by
Research
150-180 / 1000+ results 
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Pvalb8, a Type of Oncomodulin, Regulates Neuromast Development and Auditory Function in Zebrafish
Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.
research Is the Loose Anagen Hair Syndrome a Keratin Disorder?
Loose anagen hair syndrome may be caused by keratin gene mutations.
research Loose Anagen Hair Syndrome in Black‐Haired Indian Children
Loose Anagen Hair Syndrome is found in black-haired Indian children and is often missed, especially in boys.
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 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 Epidemiology of vitiligo, associated autoimmune diseases and audiological abnormalities: Ankara study of 80 patients in Turkey
Vitiligo is linked to autoimmune diseases and hearing issues, so hearing tests are recommended for patients.
research Hair in the Wrong Place
A rare ear-area hair cyst was successfully removed from a 10-year-old boy.
research Early Diffuse Alopecia in a Neonate with Congenital Syphilis
A newborn with congenital syphilis had unusual hair loss possibly caused by the infection.
research A case of localized uncombable hair syndrome
A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
research Juvenile systemic lupus erythematosus presenting only as nonscarring alopecia
A 13-year-old girl was diagnosed with juvenile lupus, showing only hair loss as a symptom.
research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
The condition is linked to chromosome 12, but no mutations were found in the known genes.
research NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Hair: more than just an appendage
A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.
research PA33 When bones speak through nails: insights from a paediatric case series
Nail abnormalities in children can indicate deeper health issues.
research Adrenoleukodystrophy: A Rare Case Report
Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research Incidental Syringomas of the Scalp in a Patient with Scarring Alopecia
A woman with unexplained hair loss was found to have harmless skin tumors and a scarring hair loss condition, but the tumors didn't cause the hair loss.
research Ectodermal Dysplasia: Otolaryngologic Manifestations and Management
Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
research Incidental Clear Cell Syringoma of the Scalp in a Patient With Lichen Planopilaris
A woman with hair loss had a benign sweat duct tumor found during a scalp biopsy.
research Congenital cataract and slowly progressing facial skin lesions in a 5‐year‐old boy
A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss
Some cases of short anagen hair syndrome are linked to specific genetic variations that are also connected to male pattern baldness.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research MSC-derived exosomes protect auditory hair cells from neomycin-induced damage via autophagy regulation
Tiny particles from stem cells can help protect ear cells from antibiotic damage by helping cells remove damaged parts.