research A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia
A specific gene mutation causes complete hair loss without other health issues.
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810-840 / 1000+ resultsresearch Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
New LSS gene variants help understand congenital hypotrichosis 14 better.
research Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay
Certain genetic variants in keratins increase the risk of tooth decay.
research Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
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 Hereditary vitamin D rickets: a case series in a family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research Sjogren-Larsson Syndrome
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research Dermoscopy: A rapid bedside tool to assess monilethrix
Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
research New familial association between ocular coloboma and loose anagen syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
research Parry-Romberg Syndrome: A Rare Case with Diagnostic Challenges and Orthodontic Implications
Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Keratin disorders: from gene to therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias
research CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
research An unusual case of Anasarca-Rapunzel syndrome
A multidisciplinary approach is crucial for treating complex cases of Rapunzel syndrome in children.
research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
research Hair-Thread Tourniquet Syndrome; Emergent Diagnosable Condition
Hair-Thread Tourniquet Syndrome is a rare condition where hair or thread tightly wraps around a child's body part, requiring quick treatment to prevent damage.
research Trichonodosis: a case report and literature review
Topical minoxidil can help improve hair in trichonodosis.
research Cantú syndrome with coexisting familial pituitary adenoma
Cantú syndrome may be linked to pituitary adenomas.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
research Association of mtDNA M/N haplogroups with systemic lupus erythematosus: a case-control study of Han Chinese women
The mtDNA N haplogroup is linked to a higher risk of late-onset lupus and specific symptoms in Han Chinese women.
research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6
New mutations in hair keratin genes cause the rare hair disorder monilethrix.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research GAPO syndrome – Report of a rare case and review
GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
research Acrodermatitis Enteropathica‐like Eruption in an Infant with Nonketotic Hyperglycinemia
A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
research Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
Mutations in the hairless gene cause a rare form of permanent hair loss.
research Hair Tourniquet Syndrome, A missed diagnosis: Review of Literature
Doctors often miss Hair Tourniquet Syndrome, which can lead to serious damage if not treated quickly.