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Pili torti

MedGen UID:
82670
Concept ID:
C0263491
Finding; Finding
Synonyms: PILI TORTI, EARLY-ONSET; PILI TORTI, RONCHESE TYPE; Twisted hair
SNOMED CT: Pili torti (17170005); Twisted hair (17170005)
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).
 
HPO: HP:0003777
Monarch Initiative: MONDO:0009870
OMIM®: 261900
Orphanet: ORPHA2889

Definition

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. [from HPO]

Clinical features

From HPO
Enamel hypoplasia
MedGen UID:
3730
Concept ID:
C0011351
Disease or Syndrome
Developmental hypoplasia of the dental enamel.
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

Term Hierarchy

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

Conditions with this feature

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.
Pili torti-deafness syndrome
MedGen UID:
82728
Concept ID:
C0266006
Disease or Syndrome
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).
Cutis laxa, X-linked
MedGen UID:
82793
Concept ID:
C0268353
Congenital Abnormality
Occipital horn syndrome (OHS) is a rare connective tissue disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, and multiple skeletal abnormalities. The disorder is sometimes accompanied by mild neurologic impairment, and bony abnormalities of the occiput are a common feature, giving rise to the name (summary by Das et al., 1995).
Follicular atrophoderma and basal cell epitheliomata
MedGen UID:
87539
Concept ID:
C0346104
Neoplastic Process
Bazex-Dupre-Christol syndrome (BDCS) is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward (Yung and Newton-Bishop, 2005). Rombo syndrome (180730) has similar features, but shows autosomal dominant inheritance.
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
MedGen UID:
98032
Concept ID:
C0406709
Disease or Syndrome
The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.
Congenital hypotrichosis with juvenile macular dystrophy
MedGen UID:
316921
Concept ID:
C1832162
Disease or Syndrome
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.
Autosomal recessive congenital ichthyosis 11
MedGen UID:
332073
Concept ID:
C1835851
Disease or Syndrome
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010). NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006). In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).
Hypotrichosis 6
MedGen UID:
335812
Concept ID:
C1842839
Disease or Syndrome
Hypotrichosis-6 (HYPT6) is a localized autosomal recessive hypotrichosis characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed (summary by Schaffer et al., 2006). Genetic Heterogeneity of Autosomal Recessive Localized Hypotrichosis LAH2 (HYPT7; 604379) is caused by mutation in the LIPH gene (607365) on chromosome 3q27, and LAH3 (HYPT8; 278150) is caused by mutation in the LPAR6 (P2RY5) gene (609239) on chromosome 13q14.12-q14.2. See also hypotrichosis and recurrent skin vesicles (613102), which is caused by mutation in the DSC3 gene (600271).
Pili torti-developmental delay-neurological abnormalities syndrome
MedGen UID:
342358
Concept ID:
C1849811
Disease or Syndrome
Abnormal hair, joint laxity, and developmental delay (HJDD) is characterized by normal hair at birth that gradually becomes sparse, twisted, brittle, and easily broken, with pili torti and trichorrhexis nodosa observed on light microscopy. Other features include increased joint mobility and cognitive delay (Sharma et al., 2019).
Pure hair and nail ectodermal dysplasia
MedGen UID:
400883
Concept ID:
C1865951
Disease or Syndrome
Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.
Trichothiodystrophy 1, photosensitive
MedGen UID:
355730
Concept ID:
C1866504
Disease or Syndrome
About half of all people with trichothiodystrophy have a photosensitive form of the disorder, which causes them to be extremely sensitive to ultraviolet (UV) rays from sunlight. They develop a severe sunburn after spending just a few minutes in the sun. However, for reasons that are unclear, they do not develop other sun-related problems such as excessive freckling of the skin or an increased risk of skin cancer. Many people with trichothiodystrophy report that they do not sweat.\n\nIntellectual disability and delayed development are common in people with trichothiodystrophy, although most affected individuals are highly social with an outgoing and engaging personality. Some people with trichothiodystrophy have brain abnormalities that can be seen with imaging tests. A common neurological feature of this disorder is impaired myelin production (dysmyelination). Myelin is a fatty substance that insulates nerve cells and promotes the rapid transmission of nerve impulses.\n\nMothers of children with trichothiodystrophy may experience problems during pregnancy including pregnancy-induced high blood pressure (preeclampsia) and a related condition called HELLP syndrome that can damage the liver. Babies with trichothiodystrophy are at increased risk of premature birth, low birth weight, and slow growth. Most children with trichothiodystrophy have short stature compared to others their age. \n\nTrichothiodystrophy is also associated with recurrent infections, particularly respiratory infections, which can be life-threatening. People with trichothiodystrophy may have abnormal red blood cells, including red blood cells that are smaller than normal. They may also have elevated levels of a type of hemoglobin called A2, which is a protein found in red blood cells. Other features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of the lens in both eyes from birth (congenital cataracts); poor coordination; and skeletal abnormalities including degeneration of both hips at an early age.\n\nThe signs and symptoms of trichothiodystrophy vary widely. Mild cases may involve only the hair. More severe cases also cause delayed development, significant intellectual disability, and recurrent infections; severely affected individuals may survive only into infancy or early childhood.\n\nIn people with trichothiodystrophy, tests show that the hair is lacking sulfur-containing proteins that normally gives hair its strength. A cross section of a cut hair shows alternating light and dark banding that has been described as a "tiger tail."\n\nTrichothiodystrophy, commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is hair that is sparse and easily broken. 
Cleft lip/palate-ectodermal dysplasia syndrome
MedGen UID:
444067
Concept ID:
C2931488
Disease or Syndrome
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome with characteristics of hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.The prevalence is unknown but to date, less than 50 cases have been described in the literature. Caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. Transmission is autosomal recessive.
Ectodermal dysplasia-syndactyly syndrome 1
MedGen UID:
462157
Concept ID:
C3150807
Disease or Syndrome
Ectodermal dysplasia-syndactyly syndrome (EDSS) is characterized by sparse to absent scalp hair, eyebrows, and eyelashes, hypoplastic nails, tooth enamel hypoplasia, conical-shaped teeth, palmoplantar keratoderma, and partial cutaneous syndactyly (summary by Raza et al., 2015). Genetic Heterogeneity of Ectodermal Dysplasia-Syndactyly Syndrome Ectodermal dysplasia-syndactyly syndrome-2 (EDSS2; 613576) maps to chromosome 7p21-p14.

Professional guidelines

PubMed

Singh G, Miteva M
Pediatr Dermatol 2016 Sep;33(5):481-7. Epub 2016 Jun 13 doi: 10.1111/pde.12902. PMID: 27293153
Singh G, Miteva M
Pediatr Dermatol 2016 Sep;33(5):473-80. Epub 2016 Jun 13 doi: 10.1111/pde.12894. PMID: 27292719

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
Singh G, Miteva M
Pediatr Dermatol 2016 Sep;33(5):481-7. Epub 2016 Jun 13 doi: 10.1111/pde.12902. PMID: 27293153
Singh G, Miteva M
Pediatr Dermatol 2016 Sep;33(5):473-80. Epub 2016 Jun 13 doi: 10.1111/pde.12894. PMID: 27292719
Calvieri S, Rossi A
G Ital Dermatol Venereol 2014 Feb;149(1):1-13. PMID: 24566562
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
Fernandez Ballesteros MD, Gómez-Moyano E
J Cutan Med Surg 2021 Mar-Apr;25(2):211. Epub 2020 Jun 5 doi: 10.1177/1203475420932516. PMID: 32498605
Evans JB, Hastings JG, Kaffenberger BH
JAMA Dermatol 2019 Apr 1;155(4):488. doi: 10.1001/jamadermatol.2018.4677. PMID: 30810707
Singh G, Miteva M
Pediatr Dermatol 2016 Sep;33(5):473-80. Epub 2016 Jun 13 doi: 10.1111/pde.12894. PMID: 27292719
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

Therapy

Ballesteros-Redondo M, Fernández-Domper L, Montesinos-Villaescusa E
Actas Dermosifiliogr 2024 Apr;115(4):T406. Epub 2024 Feb 6 doi: 10.1016/j.ad.2023.01.029. PMID: 38331171
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
Ballesteros-Redondo M, Fernández-Domper L, Montesinos-Villaescusa E
Actas Dermosifiliogr 2024 Apr;115(4):406. Epub 2023 Sep 12 doi: 10.1016/j.ad.2023.01.022. PMID: 37709132
Evans JB, Hastings JG, Kaffenberger BH
JAMA Dermatol 2019 Apr 1;155(4):488. doi: 10.1001/jamadermatol.2018.4677. PMID: 30810707
Karadağ Köse Ö, Güleç AT
J Am Acad Dermatol 2012 Aug;67(2):206-14. Epub 2011 Oct 22 doi: 10.1016/j.jaad.2011.08.019. PMID: 22024772

Prognosis

Singh G, Miteva M
Pediatr Dermatol 2016 Sep;33(5):481-7. Epub 2016 Jun 13 doi: 10.1111/pde.12902. PMID: 27293153
Singh G, Miteva M
Pediatr Dermatol 2016 Sep;33(5):473-80. Epub 2016 Jun 13 doi: 10.1111/pde.12894. PMID: 27292719
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

Rakowska A, Jasińska M, Sikora M, Czuwara J, Gajda-Mróz P, Warszawik-Hendzel O, Kwiatkowska M, Waśkiel-Burnat A, Olszewska M, Rudnicka L
Sci Rep 2021 Jan 11;11(1):282. doi: 10.1038/s41598-020-78233-1. PMID: 33431905Free PMC Article
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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