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Pili torti-deafness syndrome(BJS)

MedGen UID:
82728
Concept ID:
C0266006
Disease or Syndrome
Synonyms: Bjornstad syndrome; BJS; Deafness and pili torti, Bjornstad type; Pili torti and nerve deafness; Pili torti-sensorineural hearing loss
SNOMED CT: Pili torti-deafness syndrome (67817003); Bjornstad's syndrome (67817003)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): BCS1L (2q35)
 
Monarch Initiative: MONDO:0009872
OMIM®: 262000
Orphanet: ORPHA123

Definition

Bjornstad syndrome (BJS) is an autosomal recessive disorder characterized by sensorineural hearing loss and pili torti. The hearing loss is congenital and of variable severity. Pili torti (twisted hairs), a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair very brittle, is usually recognized early in childhood (Selvaag, 2000). [from OMIM]

Additional description

From MedlinePlus Genetics
Björnstad syndrome is a rare disorder characterized by abnormal hair and hearing problems. Affected individuals have a condition known as pili torti, which means "twisted hair," so named because the strands appear twisted when viewed under a microscope. The hair is brittle and breaks easily, leading to short hair that grows slowly. In Björnstad syndrome, pili torti usually affects only the hair on the head; eyebrows, eyelashes, and hair on other parts of the body are normal. The proportion of hairs affected and the severity of brittleness and breakage can vary. This hair abnormality commonly begins before the age of 2. It may become milder with age, particularly after puberty.

People with Björnstad syndrome also have hearing problems that become evident in early childhood. The hearing loss, which is caused by changes in the inner ear (sensorineural deafness), can range from mild to severe. Mildly affected individuals may be unable to hear sounds at certain frequencies, while severely affected individuals may not be able to hear at all.  https://medlineplus.gov/genetics/condition/bjornstad-syndrome

Clinical features

From HPO
Sensorineural hearing impairment
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Anhidrosis
MedGen UID:
1550
Concept ID:
C0003028
Disease or Syndrome
Inability to sweat.
Brittle hair
MedGen UID:
120480
Concept ID:
C0263490
Disease or Syndrome
Fragile, easily breakable hair, i.e., with reduced tensile strength.
Pili torti
MedGen UID:
82670
Concept ID:
C0263491
Finding
Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.
Coarse hair
MedGen UID:
124454
Concept ID:
C0277959
Finding
Hair shafts are rough in texture.
Dry hair
MedGen UID:
75809
Concept ID:
C0277960
Finding
Hair that lacks the luster (shine or gleam) of normal hair.
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes
MedGen UID:
871158
Concept ID:
C4025631
Anatomical Abnormality
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
A decreased functionality of the gonad.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPili torti-deafness syndrome
Follow this link to review classifications for Pili torti-deafness syndrome in Orphanet.

Professional guidelines

PubMed

FAO/WHO STEC EXPERT GROUP
J Food Prot 2019 Jan;82(1):7-21. doi: 10.4315/0362-028X.JFP-18-291. PMID: 30586326
Njage PMK, Leekitcharoenphon P, Hald T
Int J Food Microbiol 2019 Mar 2;292:72-82. Epub 2018 Dec 4 doi: 10.1016/j.ijfoodmicro.2018.11.016. PMID: 30579059
Malik K, Patel P, Chen J, Khachemoune A
Am J Clin Dermatol 2015 Feb;16(1):35-46. doi: 10.1007/s40257-015-0112-1. PMID: 25605645

Recent clinical studies

Etiology

Evans JB, Hastings JG, Kaffenberger BH
JAMA Dermatol 2019 Apr 1;155(4):488. doi: 10.1001/jamadermatol.2018.4677. PMID: 30810707
Lau SK, Koh SS
Adv Anat Pathol 2018 Jul;25(4):282-290. doi: 10.1097/PAP.0000000000000188. PMID: 29649005
Calvieri S, Rossi A
G Ital Dermatol Venereol 2014 Feb;149(1):1-13. PMID: 24566562
Franz CM, Huch M, Abriouel H, Holzapfel W, Gálvez A
Int J Food Microbiol 2011 Dec 2;151(2):125-40. Epub 2011 Sep 8 doi: 10.1016/j.ijfoodmicro.2011.08.014. PMID: 21962867
Selvaag E
Eur J Dermatol 2000 Mar;10(2):91-7. PMID: 10694305

Diagnosis

Sevinç SH, Işıkay S
Turk J Pediatr 2022;64(6):1086-1105. doi: 10.24953/turkjped.2022.221. PMID: 36583891
Evans JB, Hastings JG, Kaffenberger BH
JAMA Dermatol 2019 Apr 1;155(4):488. doi: 10.1001/jamadermatol.2018.4677. PMID: 30810707
Lau SK, Koh SS
Adv Anat Pathol 2018 Jul;25(4):282-290. doi: 10.1097/PAP.0000000000000188. PMID: 29649005
Panchaprateep R, Tanus A, Tosti A
J Am Acad Dermatol 2015 May;72(5):890-900. Epub 2015 Mar 5 doi: 10.1016/j.jaad.2015.01.024. PMID: 25748313
Hebbelstrup Jensen B, Olsen KE, Struve C, Krogfelt KA, Petersen AM
Clin Microbiol Rev 2014 Jul;27(3):614-30. doi: 10.1128/CMR.00112-13. PMID: 24982324Free PMC Article

Therapy

Gülşen S, Çıkrıkcı S
Eur Arch Otorhinolaryngol 2024 Feb;281(2):1047-1052. Epub 2023 Oct 10 doi: 10.1007/s00405-023-08265-6. PMID: 37816838
Thurman AJ, Potter LA, Kim K, Tassone F, Banasik A, Potter SN, Bullard L, Nguyen V, McDuffie A, Hagerman R, Abbeduto L
J Neurodev Disord 2020 Apr 22;12(1):12. doi: 10.1186/s11689-020-09315-4. PMID: 32316911Free PMC Article
Evans JB, Hastings JG, Kaffenberger BH
JAMA Dermatol 2019 Apr 1;155(4):488. doi: 10.1001/jamadermatol.2018.4677. PMID: 30810707
Hebbelstrup Jensen B, Olsen KE, Struve C, Krogfelt KA, Petersen AM
Clin Microbiol Rev 2014 Jul;27(3):614-30. doi: 10.1128/CMR.00112-13. PMID: 24982324Free PMC Article
Jure MA, de Saab OA, de Castillo MC, Sesma F, Miceli S, Zamora AM, de Ruiz Holgado AP, de Nader OM
Rev Latinoam Microbiol 1998 Jan-Jun;40(1-2):1-8. PMID: 10932728

Prognosis

Bree AF, Grange DK, Hicks MJ, Goltz RW
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):44-51. Epub 2016 Feb 9 doi: 10.1002/ajmg.c.31472. PMID: 26858134
Corominas H, Ortiz-Santamaría V, Castellví I, Moreno M, Morlà R, Clavaguera T, Erra A, Martínez-Pardo S, Ordóñez S, Santo P, Reyner P, González MJ, Codina O, Gelman MS, Juanola-Roura X, Olivé A, Torrente-Segarra V; CapiCAT group
Rheumatol Int 2016 Mar;36(3):365-9. Epub 2015 Nov 23 doi: 10.1007/s00296-015-3396-9. PMID: 26597492
Smpokou P, Samanta M, Berry GT, Hecht L, Engle EC, Lichter-Konecki U
Am J Med Genet A 2015 Feb;167A(2):417-20. Epub 2014 Nov 26 doi: 10.1002/ajmg.a.36853. PMID: 25428120Free PMC Article
Goulet O, Vinson C, Roquelaure B, Brousse N, Bodemer C, Cézard JP
Orphanet J Rare Dis 2008 Feb 28;3:6. doi: 10.1186/1750-1172-3-6. PMID: 18304370Free PMC Article
Selvaag E
Eur J Dermatol 2000 Mar;10(2):91-7. PMID: 10694305

Clinical prediction guides

Zago M, Condoluci C, Manzia CM, Pili M, Manunza ME, Galli M
Clin Biomech (Bristol, Avon) 2021 Feb;82:105271. Epub 2021 Jan 11 doi: 10.1016/j.clinbiomech.2021.105271. PMID: 33477082
Peña-Romero AG, Sáez-de-Ocariz M, Toussaint-Caire S, Morán-Villaseñor E, Orozco-Covarrubias L, Durán-McKinster C
Pediatr Dermatol 2021 Mar;38(2):442-448. Epub 2020 Oct 21 doi: 10.1111/pde.14415. PMID: 33085121
Rudnicka L, Olszewska M, Waśkiel A, Rakowska A
Dermatol Clin 2018 Oct;36(4):421-430. Epub 2018 Aug 16 doi: 10.1016/j.det.2018.05.009. PMID: 30201151
Bindu PS, Taly AB, Kothari S, Christopher R, Gayathri N, Sinha S, Nagappa M, Bhatt M, Bharath RD
Brain Dev 2013 May;35(5):398-405. Epub 2012 Aug 24 doi: 10.1016/j.braindev.2012.07.016. PMID: 22921468
Lubianca Neto JF, Lu L, Eavey RD, Flores MA, Caldera RM, Sangwatanaroj S, Schott JJ, McDonough B, Santos JI, Seidman CE, Seidman JG
Am J Hum Genet 1998 May;62(5):1107-12. doi: 10.1086/301837. PMID: 9545407Free PMC Article

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