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Pili torti-onychodysplasia syndrome

MedGen UID:
419090
•Concept ID:
C2931483
•
Disease or Syndrome
Synonyms: Pili torti onychodysplasia; Twisted hair with nail dysplasias
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).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017321
Orphanet: ORPHA2890

Definition

A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991. [from ORDO]

Term Hierarchy

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

Professional guidelines

PubMed

Hazard Identification and Characterization: Criteria for Categorizing Shiga Toxin-Producing Escherichia coli on a Risk Basis(†).
FAO/WHO STEC EXPERT GROUP
J Food Prot 2019 Jan;82(1):7-21. doi: 10.4315/0362-028X.JFP-18-291. PMID: 30586326
Improving hazard characterization in microbial risk assessment using next generation sequencing data and machine learning: Predicting clinical outcomes in shigatoxigenic Escherichia coli.
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
Leiomyoma cutis: a focused review on presentation, management, and association with malignancy.
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

Acquired Pili Torti.
Evans JB, Hastings JG, Kaffenberger BH
JAMA Dermatol 2019 Apr 1;155(4):488. doi: 10.1001/jamadermatol.2018.4677. PMID: 30810707
Cutaneous Smooth Muscle Tumors: A Review.
Lau SK, Koh SS
Adv Anat Pathol 2018 Jul;25(4):282-290. doi: 10.1097/PAP.0000000000000188. PMID: 29649005
Alopecia in genetic diseases.
Calvieri S, Rossi A
G Ital Dermatol Venereol 2014 Feb;149(1):1-13. PMID: 24566562
Enterococci as probiotics and their implications in food safety.
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
Pili torti and sensorineural hearing loss. A follow-up of Bjørnstad's original patients and a review of the literature.
Selvaag E
Eur J Dermatol 2000 Mar;10(2):91-7. PMID: 10694305

Diagnosis

Evaluation of hair structural abnormalities in children with different neurological diseases.
Sevinç SH, Işıkay S
Turk J Pediatr 2022;64(6):1086-1105. doi: 10.24953/turkjped.2022.221. PMID: 36583891
Acquired Pili Torti.
Evans JB, Hastings JG, Kaffenberger BH
JAMA Dermatol 2019 Apr 1;155(4):488. doi: 10.1001/jamadermatol.2018.4677. PMID: 30810707
Cutaneous Smooth Muscle Tumors: A Review.
Lau SK, Koh SS
Adv Anat Pathol 2018 Jul;25(4):282-290. doi: 10.1097/PAP.0000000000000188. PMID: 29649005
Clinical, dermoscopic, and histopathologic features of body hair disorders.
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
Epidemiology and clinical manifestations of enteroaggregative Escherichia coli.
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

Cochlear implantation in Bjornstad syndrome: a case series with literature review.
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
Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome.
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
Acquired Pili Torti.
Evans JB, Hastings JG, Kaffenberger BH
JAMA Dermatol 2019 Apr 1;155(4):488. doi: 10.1001/jamadermatol.2018.4677. PMID: 30810707
Epidemiology and clinical manifestations of enteroaggregative Escherichia coli.
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
Association between hemolytic uremic syndrome and verotoxin-producing strains of E. coli.
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

Dermatologic findings of focal dermal hypoplasia (Goltz syndrome).
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
Nailfold capillaroscopic findings in primary Sjögren's syndrome with and without Raynaud's phenomenon and/or positive anti-SSA/Ro and anti-SSB/La antibodies.
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
Menkes disease in affected females: the clinical disease spectrum.
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
Syndromic (phenotypic) diarrhea in early infancy.
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
Pili torti and sensorineural hearing loss. A follow-up of Bjørnstad's original patients and a review of the literature.
Selvaag E
Eur J Dermatol 2000 Mar;10(2):91-7. PMID: 10694305

Clinical prediction guides

Multi-segmental postural control patterns in down syndrome.
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
Clinical, trichoscopy, and light microscopic findings in hypohidrotic ectodermal dysplasia: Report of 21 patients and a review of the literature.
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
Trichoscopy in Hair Shaft Disorders.
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
Electro-clinical features and magnetic resonance imaging correlates in Menkes disease.
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
The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36.
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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