research Role of Trichoscopy in diagnosing Genotrichosis—A Report of Two Cases
Trichoscopy is crucial for diagnosing rare genetic hair disorders.
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240-270 / 1000+ resultsresearch Alopezien und Hypotrichosen im Kindesalter
Genetic testing can identify causes of rare hair loss disorders in children, but no treatments exist.
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
A specific gene mutation causes congenital hair loss.
research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A specific gene mutation causes sparse, brittle hair in a family.
research The Role of Nrf2 in Hearing Loss
Activating Nrf2 can help protect against hearing loss.
research Uncombable-hair Syndrome
Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
research P133 Late onset loose anagen syndrome
Adults can develop late-onset loose anagen syndrome, which may often be misdiagnosed.
research Delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old male patient: a case report.
A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
research Nevoid basal carcinoma syndrome (Gorlin syndrome) and pronounced androgenic alopecia in a woman with a novel mutation p.Leu1159fsx32 in the PTCH gene
A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Diagnosis and Treatment of Nonscarring Hair Loss in Primary Care in 2021
Primary care in 2021 focused on identifying nonscarring hair loss and managing common types based on the pattern of hair loss.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research Occult Syringomas of Scalp Associated With Progressive Hair Loss
Hidden sweat gland tumors might cause hair loss.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Congenital Triangular Alopecia
Congenital triangular alopecia is a harmless, non-spreading hair loss condition often seen in young children.
research Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
New genetic mutations causing hair loss were found in a Chinese family.
research Effect of low level laser therapy on hair cell regeneration following gentamicin induced ototoxicity in postnatal organotypic culture of rat cochlea
Low level laser therapy may help regenerate hair cells in the ear after damage from gentamicin.
research 236 Wnt/planar cell polarity impairment and the genetics of yellow nail syndrome
Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
research Loose anagen hair syndrome
Loose Anagen Syndrome is a hair condition where hairs can be easily pulled out, mainly affecting young girls, and may improve on its own or with treatment.
research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research Genetic analysis does not confirm non-classical congenital adrenal hyperplasia in more than a third of the women followed with this diagnosis
Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.
research Localized Acquired Alopecia over the Mental Area of Chin
A 12-year-old boy has a rare, harmless hair loss on his chin with no need for treatment.
research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research Halo scalp ring: an undiagnosed neonatal scalp alopecia
Halo Scalp Ring is a rare newborn hair loss that can be missed, and early diagnosis can avoid extra tests and worry for parents.