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Navarini, Alexander A.; Kaufmann, F.; Kaech, Andres; Trüeb, Ralph M.; Weibel, Lisa

doi:10.1001/archpediatrics.2010.228-a

Cited by 7 publications

(5 citation statements)

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“…Uncombable hair syndrome (UHS 1-3; OMIM 191480, 617251, 617252, respectively) is a rare, autosomal recessive disorder characterized by an abnormal hair shaft . Dermatologists also refer to UHS as spun glass hair syndrome or pili trianguli et canaliculi.…”

Section: Introductionmentioning

confidence: 99%

“…ncombable hair syndrome (UHS 1-3; OMIM 191480, 617251, 617252, respectively) is a rare, autosomal recessive disorder characterized by an abnormal hair shaft. [1][2][3] Dermatologists also refer to UHS as spun glass hair syndrome or pili trianguli et canaliculi. Children with UHS present with dry, frizzy, wiry, and often light-colored, shiny hair that stands out from the scalp and cannot be combed flat.…”

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confidence: 99%

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Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals

et al. 2022

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ImportanceUncombable hair syndrome (UHS) is a rare hair shaft anomaly that manifests during infancy and is characterized by dry, frizzy, and wiry hair that cannot be combed flat. Only about 100 known cases have been reported so far.ObjectiveTo elucidate the genetic spectrum of UHS.Design, Setting, and ParticipantsThis cohort study includes 107 unrelated index patients with a suspected diagnosis of UHS and family members who were recruited worldwide from January 2013 to December 2021. Participants of all ages, races, and ethnicities were recruited at referral centers or were enrolled on their own initiative following personal contact with the authors. Genetic analyses were conducted in Germany from January 2014 to December 2021.Main Outcomes and MeasuresClinical photographs, Sanger or whole-exome sequencing and array-based genotyping of DNA extracted from blood or saliva samples, and 3-dimensional protein modeling. Descriptive statistics, such as frequency counts, were used to describe the distribution of identified pathogenic variants and genotypes.ResultsThe genetic characteristics of patients with UHS were established in 80 of 107 (74.8%) index patients (82 [76.6%] female) who carried biallelic pathogenic variants in PADI3, TGM3, or TCHH (ie, genes that encode functionally related hair shaft proteins). Molecular genetic findings from 11 of these 80 individuals were previously published. In 76 (71.0%) individuals, the UHS phenotype were associated with pathogenic variants in PADI3. The 2 most commonly observed PADI3 variants account for 73 (48.0%) and 57 (37.5%) of the 152 variant PADI3 alleles in total, respectively. Two individuals carried pathogenic variants in TGM3, and 2 others carried pathogenic variants in TCHH. Haplotype analyses suggested a founder effect for the 4 most commonly observed pathogenic variants in the PADI3 gene.Conclusions and RelevanceThis cohort study extends and gives an overview of the genetic variant spectrum of UHS based on molecular genetic analyses of the largest worldwide collective of affected individuals, to our knowledge. Formerly, a diagnosis of UHS could only be made by physical examination of the patient and confirmed by microscopical examination of the hair shaft. The discovery of pathogenic variants in PADI3, TCHH, and TGM3 may open a new avenue for clinicians and affected individuals by introducing molecular diagnostics for UHS.

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confidence: 99%

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Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals

et al. 2022

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Uncombable hair syndrome (UHS) is a rare autosomal-dominant condition that can show both complete and incomplete penetrance.It can present at any time during infancy until 12 years of age and often resolves with puberty. [1][2][3][4][5] UHS is usually an isolated finding, but association with juvenile cataract, retinal dystrophy, brachydactyly, or mental retardation has been reported. [1][2][3] In the classical form of UHS, all scalp is involved: The total amount of hairs is normal, but growth can be decreased.

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“…1,2 The entire hair shaft is involved causing twisting along its axis at regular intervals, while cuticles are intact; thus, hairs are resistant to being combed flat. [1][2][3][4][5] Recently, mutations in genes encoding for hair shaft proteins 1 were found to be responsible for structural anomalies such as the longitudinal groove along the entire length of the shaft, causing a characteristic triangular cross section; also kidney-shaped, flat, or irregular sections have been reported, thus the descriptive name "pili trianguli et canaliculi".…”

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“…To date, scanning electron microscopy SEM remains the gold standard for diagnostic confirmation is specific alterations of the hair shaft grooving. [3][4][5] However, this technique is very expensive and available only in few centers. Some rapid and less expensive methods have been recently reported, such as paraffin embedding and hematoxylin-eosin staining, 7 or freezing in liquid nitrogen and Geschickter stain, but provide few information of the hair shaft morphology.…”

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Localized uncombable hair syndrome: Non‐invasive imaging with high‐resolution videodermoscopy

Tognetti

Pianigiani

Carraro

et al. 2021

Skin Research and Technology

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Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

Basmanav

Cau

Tafazzoli

et al. 2016

The American Journal of Human Genetics

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Uncombable hair syndrome (UHS), also known as "spun glass hair syndrome," "pili trianguli et canaliculi," or "cheveux incoiffables" is a rare anomaly of the hair shaft that occurs in children and improves with age. UHS is characterized by dry, frizzy, spangly, and often fair hair that is resistant to being combed flat. Until now, both simplex and familial UHS-affected case subjects with autosomal-dominant as well as -recessive inheritance have been reported. However, none of these case subjects were linked to a molecular genetic cause. Here, we report the identification of UHS-causative mutations located in the three genes PADI3 (peptidylarginine deiminase 3), TGM3 (transglutaminase 3), and TCHH (trichohyalin) in a total of 11 children. All of these individuals carry homozygous or compound heterozygous mutations in one of these three genes, indicating an autosomal-recessive inheritance pattern in the majority of UHS case subjects. The two enzymes PADI3 and TGM3, responsible for posttranslational protein modifications, and their target structural protein TCHH are all involved in hair shaft formation. Elucidation of the molecular outcomes of the disease-causing mutations by cell culture experiments and tridimensional protein models demonstrated clear differences in the structural organization and activity of mutant and wild-type proteins. Scanning electron microscopy observations revealed morphological alterations in hair coat of Padi3 knockout mice. All together, these findings elucidate the molecular genetic causes of UHS and shed light on its pathophysiology and hair physiology in general.

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Picture of the Month—Quiz Case

Cited by 7 publications

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Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals

Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals

Localized uncombable hair syndrome: Non‐invasive imaging with high‐resolution videodermoscopy

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

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