MCID: PLT022
MIFTS: 33

Pili Torti, Early-Onset

Categories: Rare diseases, Skin diseases
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Aliases & Classifications for Pili Torti, Early-Onset

MalaCards integrated aliases for Pili Torti, Early-Onset:

Name: Pili Torti, Early-Onset 57
Pili Torti 19 58 75 53
Twisted Hair 57 19 58
Coarse, Dry, Lusterless Hair Which Breaks off Easily 19
Pili Torti, Ronchese Type 57

Characteristics:


Inheritance:

Pili Torti, Early-Onset: Autosomal dominant 57
Pili Torti: Autosomal recessive 58

Age Of Onset:

Pili Torti: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in early childhood
hair may normalize at puberty


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 261900
ICD10 via Orphanet 32 Q84.1
UMLS via Orphanet 72 C0263491
Orphanet 58 ORPHA2889
MedGen 40 C0263491

Summaries for Pili Torti, Early-Onset

GARD: 19 Pili torti is a rare hair condition characterized by fragile hair. In Pili torti hair has a flattened shaft with clusters of narrow twists at irregular intervals. Some cases may be inherited in autosomal dominant or autosomal recessive patterns, while others are acquired. In the inherited form, symptoms tend to be present from early childhood. It can occur alone or as part of other diseases like ectodermal dysplasias, Menke disease, Bjornstand syndrome, or Bazex syndrome. If Pili torti is detected, it is necessary to investigate possible neurological disorders, hearing loss, and defects in the hair, nails, sweat glands and teeth.

MalaCards based summary: Pili Torti, Early-Onset, also known as pili torti, is related to abnormal hair, joint laxity, and developmental delay and crandall syndrome. An important gene associated with Pili Torti, Early-Onset is KRT17 (Keratin 17). Affiliated tissues include skin, tongue and eye, and related phenotypes are pili torti and abnormality of the nail

OMIM®: 57 Pili torti, or twisted hair, is a condition in which the hair shafts are flattened and rotated along their long axis. Hairs are fragile and break at short length. Some patients may have associated dental or nail findings, and many have resolution of the fragile hair at puberty (review by Dawber, 1996). Pili torti is also a feature in several disorders, including Bjornstad syndrome (BJS; 262000), Bazex syndrome (BZX; 301845), and Menkes disease (309400). (261900) (Updated 08-Dec-2022)

Orphanet: 58 Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms).

Wikipedia: 75 Pili torti (singular pilus tortus; also known as "twisted hairs") is characterized by short and brittle... more...

Related Diseases for Pili Torti, Early-Onset

Diseases related to Pili Torti, Early-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 73, show less)
# Related Disease Score Top Affiliating Genes
1 abnormal hair, joint laxity, and developmental delay 11.9
2 crandall syndrome 11.4
3 cleft lip/palate-ectodermal dysplasia syndrome 11.4
4 bustos simosa pinto cisternas syndrome 11.4
5 trichodysplasia-xeroderma 11.4
6 acrofacial dysostosis, palagonia type 11.4
7 cleft lip palate oligodontia syndactyly pili torti 11.2
8 ectodermal dysplasia-syndactyly syndrome 1 11.2
9 acrofacial dysostosis, patagonia type 11.2
10 trueb burg bottani syndrome 11.2
11 pili torti onychodysplasia 11.2
12 hypotrichosis 4 11.1
13 bjornstad syndrome 11.1
14 alopecia 10.5
15 sensorineural hearing loss 10.4
16 ectodermal dysplasia 10.4
17 alopecia areata 10.4
18 menkes disease 10.4
19 rapp-hodgkin syndrome 10.3
20 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
21 cleft lip 10.3
22 cleft lip/palate 10.3
23 clouston syndrome 10.2
24 chromosome 2q35 duplication syndrome 10.2
25 uncombable hair syndrome 1 10.2
26 netherton syndrome 10.2
27 hypotrichosis 7 10.2
28 superficial mycosis 10.2
29 tooth agenesis 10.2
30 anhidrosis 10.2
31 black piedra 10.2
32 hypotrichosis 10.2
33 frontal fibrosing alopecia 10.2
34 ankyloblepharon-ectodermal defects-cleft lip/palate 10.1
35 alopecia, androgenetic, 1 10.1
36 epidermolytic hyperkeratosis 10.1
37 cleft palate, isolated 10.1
38 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.1
39 ichthyosis vulgaris 10.1
40 monilethrix 10.1
41 nail disorder, nonsyndromic congenital, 1 10.1
42 split-hand/foot malformation 1 10.1
43 citrullinemia, classic 10.1
44 taurodontism 10.1
45 bazex syndrome 10.1
46 ectodermal dysplasia 4, hair/nail type 10.1
47 dermatitis, atopic 10.1
48 dermatitis, atopic, 2 10.1
49 androgenic alopecia 10.1
50 primary cutaneous t-cell non-hodgkin lymphoma 10.1
51 autosomal recessive congenital ichthyosis 10.1
52 split hand-foot malformation 10.1
53 keratomalacia 10.1
54 paronychia 10.1
55 ehlers-danlos syndrome 10.1
56 ichthyosis 10.1
57 hypogonadism 10.1
58 dermatitis 10.1
59 palmoplantar keratosis 10.1
60 cellulitis 10.1
61 hair disease 10.1
62 folliculitis 10.1
63 nutritional deficiency disease 10.1
64 cataract 10.1
65 hidrotic ectodermal dysplasia 2 10.1
66 quinquaud folliculitis decalvans 10.1
67 posttransplant acute limbic encephalitis 10.1
68 isolated split hand-split foot malformation 10.1
69 autosomal dominant epidermolytic ichthyosis 10.1
70 discoid lupus erythematosus 10.1
71 anorexia nervosa 9.9
72 hypertrichosis 9.9
73 acne 9.9

Graphical network of the top 20 diseases related to Pili Torti, Early-Onset:



Diseases related to Pili Torti, Early-Onset

Symptoms & Phenotypes for Pili Torti, Early-Onset

Human phenotypes related to Pili Torti, Early-Onset:

58 30 (showing 14, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pili torti 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003777
2 abnormality of the nail 58 30 Frequent (33%) Frequent (79-30%)
HP:0001597
3 alopecia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001596
4 abnormal eyebrow morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0000534
5 brittle hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0002299
6 abnormal dental enamel morphology 30 Frequent (33%) HP:0000682
7 hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000365
8 abnormality of the dentition 58 Frequent (79-30%)
9 coarse hair 30 HP:0002208
10 abnormality of dental enamel 58 Frequent (79-30%)
11 abnormality of hair texture 58 Very frequent (99-80%)
12 dry hair 30 HP:0011359
13 hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes 30 HP:0003329
14 enamel hypoplasia 30 HP:0006297

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Teeth:
enamel hypoplasia may occur

Skin Nails Hair Nails:
nail dystrophy may occur

Skin Nails Hair Skin:
hyperkeratosis pilaris may occur

Skin Nails Hair Hair:
brittle, dry hair
flattened hair
hair appears spangled in reflective light
hair twists on long axis, 90 to 360 degrees
hair fragility

Clinical features from OMIM®:

261900 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Pili Torti, Early-Onset according to GeneCards Suite gene sharing:

25 (showing 15, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.5 KRT17
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.5 KRT17
3 Increased shRNA abundance (Z-score > 2) GR00366-A-144 9.5 CP
4 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.5 CP
5 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.5 KRT17
6 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.5 KRT17
7 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.5 KRT17
8 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.5 KRT17
9 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.5 KRT17
10 Increased shRNA abundance (Z-score > 2) GR00366-A-209 9.5 CP
11 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.5 KRT17
12 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.5 KRT17
13 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.5 KRT17
14 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.5 KRT17
15 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.5 KRT17

MGI Mouse Phenotypes related to Pili Torti, Early-Onset:

45 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 CP KRT17

Drugs & Therapeutics for Pili Torti, Early-Onset

Search Clinical Trials, NIH Clinical Center for Pili Torti, Early-Onset

Genetic Tests for Pili Torti, Early-Onset

Anatomical Context for Pili Torti, Early-Onset

Organs/tissues related to Pili Torti, Early-Onset:

MalaCards : Skin, Tongue, Eye

Publications for Pili Torti, Early-Onset

Articles related to Pili Torti, Early-Onset:

(showing 191, show less)
# Title Authors PMID Year
1
Picture of the month. Pili torti. 62 57
10357309 1999
2
An update of hair shaft disorders. 57
9238334 1996
3
[Neonatal onset of Menkes disease: diagnosis interest of cupremia and microscopic examination of the hairs]. 53 62
17651950 2007
4
In vivo alteration of the keratin 17 gene in hair follicles by oligonucleotide-directed gene targeting. 53 62
14714564 2003
5
Keratin 17 expression in the hard epithelial context of the hair and nail, and its relevance for the pachyonychia congenita phenotype. 53 62
10844551 2000
6
Menkes' disease: report of a case and determination of eumelanin and pheomelanin in hypopigmented hair. 53 62
1638075 1992
7
Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome. 62
35960161 2022
8
Usefulness of Trichoscopy over Hair Light Microscopy in Menkes Disease. 62
35118132 2022
9
The trichoscopic features of hair shaft anomalies induced by epidermal growth factor receptor inhibitors: A case series. 62
32244022 2021
10
Pili Torti: A Feature of Numerous Congenital and Acquired Conditions. 62
34501349 2021
11
Tuning the reversibility of hair artificial muscles by disulfide cross-linking for sensors, switches, and soft robotics. 62
34846462 2021
12
Single hair fiber assessment techniques to discriminate between mineral oil and coconut oil effect on hair physical properties. 62
32949101 2021
13
Clinical, trichoscopy, and light microscopic findings in hypohidrotic ectodermal dysplasia: Report of 21 patients and a review of the literature. 62
33085121 2021
14
Cutaneous T-cell lymphoma in erythrodermic cases may be suspected on the basis of scalp examination with dermoscopy. 62
33431905 2021
15
A novel mutation in the ubiquinol-cytochrome c reductase synthesis-like gene associated with complex III deficiency and Björnstad syndrome: A case report. 62
33126389 2020
16
Clouston syndrome with pili canaliculi, pili torti, overgrown hyponychium, onycholysis, taurodontism and absence of palmoplantar keratoderma. 62
32220018 2020
17
Scanning Electron Microscopy of Subclinical Gefitinib-Induced Hair Changes. 62
33223740 2020
18
Scanning Electron Microscopy of Erlotinib-induced Hair Changes: Pili Torti et Canaliculi. 62
32030058 2019
19
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease. 62
31435670 2019
20
Pili Torti as a Sign of Eyebrow Involvement in Frontal Fibrosing Alopecia. 62
31799271 2019
21
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. 62
31125343 2019
22
Acquired Pili Torti. 62
30810707 2019
23
Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships. 62
30582773 2019
24
Trichoscopy in Hair Shaft Disorders. 62
30201151 2018
25
Pili torti, pale and elastic skin, and severe neurological impairment. 62
29288599 2018
26
Pili torti, bleiche und elastische Haut sowie eine schwere neurologische Beeinträchtigung. 62
29537163 2018
27
A Point to Note in Pili Torti. 62
29769787 2018
28
A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1. 62
29265343 2018
29
Long-standing pili torti in 2 patients with chronic graft-vs-host disease. 62
29296651 2018
30
Trichoscopic Features of Linear Morphea on the Scalp. 62
29457011 2018
31
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings. 62
28322498 2017
32
Morphological analyses in fragility of pili torti with Björnstad syndrome. 62
27882597 2017
33
Loose Anchoring of Anagen Hairs and Pili Torti due to Erlotinib. 62
28442878 2016
34
Prognosis and Management of Congenital Hair Shaft Disorders with Fragility-Part I. 62
27292719 2016
35
Prognosis and Management of Congenital Hair Shaft Disorders without Fragility-Part II. 62
27293153 2016
36
Iliac Artery Aneurysms in Menkes Disease: A Case Report. 62
29906074 2016
37
The Arid Melancholy-Netherton Syndrome With Protein Energy Malnutrition. 62
27190931 2016
38
Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis. 62
26269244 2016
39
Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). 62
26858134 2016
40
A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION. 62
30226971 2016
41
Trichoscopic Hair Evaluation in Patients with Ectodermal Dysplasia. 62
25935816 2015
42
Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. 62
25895478 2015
43
Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient. 62
25913853 2015
44
Steatocystoma multiplex with hair shaft abnormalities. 62
25808203 2015
45
Clinical presentation of pili torti--Case report. 62
26312667 2015
46
Skin features in myotonic dystrophy type 1: an observational study. 62
25813338 2015
47
Menkes disease in affected females: the clinical disease spectrum. 62
25428120 2015
48
Marie-unna hereditary hypotrichosis. 62
25368478 2014
49
Hair curvature: a natural dialectic and review. 62
24617997 2014
50
Alopecia in genetic diseases. 62
24566562 2014
51
Light microscopic hair abnormalities in children: retrospective review of 119 cases in a 10-year period. 62
24251687 2014
52
Netherton syndrome with pili torti. 62
24778540 2013
53
Electro-clinical features and magnetic resonance imaging correlates in Menkes disease. 62
22921468 2013
54
A case of pili torti in a young adult domestic short-haired cat. 62
23384010 2013
55
Dermoscopy for the pediatric dermatologist part I: dermoscopy of pediatric infectious and inflammatory skin lesions and hair disorders. 62
23405886 2013
56
Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis. 62
23099647 2012
57
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. 62
22584530 2012
58
Clinical evaluation of alopecias using a handheld dermatoscope. 62
22024772 2012
59
Trichoscopy update 2011. 62
22408709 2011
60
Kinky hair, kinky vessels, and bladder diverticula in Menkes disease. 62
20412396 2011
61
Effects of IGF-binding protein 5 in dysregulating the shape of human hair. 62
20944648 2011
62
Hair diagnoses and signs: the use of dermatoscopy. 62
19549236 2010
63
Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. 62
19697429 2009
64
Pili torti: clinical findings, associated disorders, and new insights into mechanisms of hair twisting. 62
19842574 2009
65
Schöpf-Schulz-Passarge syndrome with pili torti: A new association? 62
19527991 2009
66
[Clinical and laboratory features of the Menkes disease]. 62
19951494 2009
67
Menkes kinky hair disease: A case report. 62
18801184 2008
68
Trichoscopy in genetic hair shaft abnormalities. 62
21886705 2008
69
Syndromic (phenotypic) diarrhea in early infancy. 62
18304370 2008
70
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 62
17314340 2007
71
Clinical and pathological features of pachyonychia congenita. 62
16250204 2005
72
Identification of a novel locus for Marie Unna hereditary hypotrichosis to a 17.5 cM interval at 1p21.1-1q21.3. 62
16185270 2005
73
Low prevalence of twisted hair in anorexia nervosa. 62
15953065 2005
74
Circumscribed scalp hair loss following multiple hair-cutter ant invasion. 62
15530304 2004
75
[West syndrome as an epileptic presentation in Menkes' disease. Two cases report]. 62
15264163 2004
76
Hair and sweat glands in families with hypohidrotic ectodermal dysplasia: further characterization. 62
15262696 2004
77
Hypotrichosis and nail dysplasia: a novel hidrotic ectodermal dysplasia. 62
15068456 2004
78
Tensile properties of twisted hair fibers. 62
15645104 2004
79
Laron syndrome (primary growth hormone insensitivity): a unique model to explore the effect of insulin-like growth factor 1 deficiency on human hair. 62
15178913 2004
80
Hair anomalies as a sign of mitochondrial disease. 62
12712334 2003
81
A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy. 62
12445216 2002
82
Ultrastructural study of acquired pili torti-like hair defects accompanying pseudopelade. 62
12027083 2002
83
Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome. 62
11807445 2002
84
Hair bundle motility induced by chemoreceptors in anemones. 62
11788205 2002
85
A case of Netherton's syndrome with cerebral infarction. 62
11592518 2001
86
Novel keratin 17 mutations in pachyonychia congenita type 2. 62
11348474 2001
87
[Sodium valproate-induced kinky hair]. 62
11275589 2001
88
Pili torti et canaliculi and agenesis of the teeth: report of a new "pure" hair-tooth ectodermal dysplasia in a Norwegian family. 62
11182937 2000
89
Pili torti and sensorineural hearing loss. A follow-up of Bjørnstad's original patients and a review of the literature. 62
10694305 2000
90
Sporadic Bazex-Dupré-Christol-like syndrome: early onset basal cell carcinoma, hypohidrosis, hypotrichosis, and prominent milia. 62
10691946 2000
91
Netherton's syndrome in siblings. 62
10606859 1999
92
Pili torti with congenital deafness (Bjornstad syndrome): a case report. 62
10383781 1999
93
[Pilar dysplasia: an early marker of giant axonal neuropathy]. 62
9922862 1998
94
Rapp-Hodgkin syndrome with palmoplantar keratoderma, glossy tongue, congenital absence of lingual frenum and of sublingual caruncles: newly recognized findings. 62
9779799 1998
95
The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36. 62
9545407 1998
96
A case of probable autosomal recessive ectodermal dysplasia with corkscrew hairs and mental retardation in a family with tuberous sclerosis. 62
9486713 1998
97
Björnstad syndrome in a patient with mental retardation. 62
9777342 1998
98
[Neurocutaneous syndrome with hair alterations]. 62
9273169 1997
99
Another "new" form, the palagonia type of acrofacial dysostosis in a Sicilian family. 62
9098488 1997
100
Scarring folliculitis in the ectrodactyly-ectodermal dysplasia-clefting syndrome. Histologic, scanning electron-microscopic and biophysical studies of hair. 62
9094476 1997
101
Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype. 62
8914740 1996
102
[Structural abnormalities of the hair shaft]. 62
8650658 1996
103
Acquired pili torti--a structural hair shaft defect in anorexia nervosa. 62
8882012 1996
104
Hypotrichosis, hair structure defects, hypercysteine hair and glucosuria: a new genetic syndrome? 62
8746349 1996
105
Hair shaft abnormalities: Part I. 62
8593104 1995
106
Helical hairs: a new hair anomaly in a patient with Netherton's syndrome. 62
7648886 1995
107
Scalp dermatitis, distinctive hair abnormalities and atopic disease in the ectrodactyly-ectodermal dysplasia-clefting syndrome. 62
7748757 1995
108
[Hair disorders and neurological impairments (neurotricosis): three new cases]. 62
7497201 1995
109
Pathogenesis in pili torti: morphological study. 62
7528051 1994
110
[Pili torti et canaliculi in ectodermal dysplasia]. 62
8071068 1994
111
[Hair dysplasia in oculo-dento-digital syndrome. Apropos of a mother-daughter case]. 62
7793757 1994
112
[Follicular atrophoderma, basal cell proliferation and hypotrichosis (Bazex-Dupré-Christol syndrome). A study in 2 families]. 62
7702247 1994
113
[Bazex-Dupré-Christol syndrome. Follicular atrophoderma, multiple basal cell carcinomas and hypotrichosis]. 62
8335462 1993
114
Rapp-Hodgkin syndrome with pili canaliculi. 62
8493170 1993
115
Pili torti with congenital deafness (Bjornstad's syndrome)--report of three cases in one family, suggesting autosomal dominant transmission. 62
8440069 1993
116
Cutaneous findings in a new syndrome of autosomal recessive ectodermal dysplasia with corkscrew hairs. 62
1479096 1992
117
Familial syndrome of endocrine and neuroectodermal abnormalities. 62
1442893 1992
118
[Multiple woolly hair nevi with linear epidermal nevus and persistent pupillary membrane]. 62
1506203 1992
119
Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities. 62
1379303 1992
120
Pili torti and onychodysplasia. Report of a previously undescribed hidrotic ectodermal dysplasia. 62
1879585 1991
121
[Menkes' kinky hair disease: report of 2 cases]. 62
2178069 1990
122
Serial imaging of Menkes disease. 62
2185434 1990
123
[Menkes' kinky hair disease: report of one case]. 62
2637598 1989
124
The natural history of 'dystrophic' pili torti. 62
2923803 1989
125
[Bazex, Dupré and Christol syndrome. Apropos of a case with prolymphocytic leukemia]. 62
2675736 1989
126
[Bjornstad syndrome]. 62
2666787 1989
127
Postmortem Menkes diagnosis from carrier testing of female relatives. 62
3436089 1987
128
Uncombable-hair syndrome. 62
3422852 1987
129
[Hypotrichosis congenita hereditaria Marie Unna with Ehlers-Danlos syndrome and atopy]. 62
3692855 1987
130
A child with hair loss. Pili torti, apparently unassociated with other abnormalities. 62
3631987 1987
131
Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome? 62
3035184 1987
132
Menkes disease--an autopsy case with metal analysis of hair. 62
3269246 1987
133
Pili torti and hirsuties: are twisted hairs a normal variant? 62
2449003 1987
134
[Wooly hair syndrome. Clinical and microscopic study]. 62
3434941 1987
135
Ectodermal manifestations in Menkes disease. 62
4075564 1985
136
Association of pili torti and leukonychia. 62
4017647 1985
137
Acquired pili torti in two patients treated with synthetic retinoids. 62
3859397 1985
138
[Nosographic limits of the Netherton syndrome]. 62
3841392 1985
139
Pili torti in association with citrullinemia. 62
3973120 1985
140
Difficulties in the neonatal diagnosis of Menkes' kinky hair syndrome--trichopoliodystrophy. 62
6467787 1984
141
[Menkes syndrome: review of the pathogenesis apropos of a clinico-pathological case]. 62
6497717 1984
142
Pathogenesis in trichorrhexis invaginata (bamboo hair). 62
6547464 1984
143
[A new case of Menkes syndrome. Prenatal exclusion diagnosis in a subsequent pregnancy]. 62
6739227 1984
144
Björnstad syndrome and pili torti. 62
6679889 1983
145
[Woolly hair. Apropos of 5 cases]. 62
6366396 1983
146
A case of hyperkeratosis palmoplantaris striata combined with pili torti, hypohidrosis, hypodontia and hypacusis. 62
6217715 1982
147
Neurotrichosis: hair-shaft abnormalities associated with neurological diseases. 62
7141120 1982
148
SEM analysis of body hairs and whiskers of heterozygous tortoiseshell (Moto/+) female mice (Mus musculus). 62
7130053 1982
149
[A syndrome: uncombable hair. Observation of 6 members of a family with pili canaliculi, associated with pili torti, progressive alopecia, atopic eczema and hamartomas]. 62
7107281 1982
150
Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome. 62
7116674 1982
151
Menkes' syndrome (trichopoliodystrophy): use of scanning electron-microscope in diagnosis and carrier identification. 62
7250545 1981
152
Arginosuccinic aciduria with pili torti. 62
7205861 1981
153
[Cutaneous manifestations of McCune-Albright syndrome: report of a case (author's transl)]. 62
7337370 1981
154
[Clinical features and genetics of the ichthyosis vulgaris group]. 62
7274918 1980
155
[X-linked dominant chondrodysplasia punctata (author's transl)]. 62
7366591 1980
156
Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities. A link between the ichthyosis-associated and BIDS syndromes. 62
7364988 1980
157
[Menkes' syndrome with alternating pili torti]. 62
7387060 1980
158
[Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)]. 62
511082 1979
159
Pili torti with deafness (Bjørnstad syndrome). Report of a family. 62
478043 1979
160
Sensorineural hearing loss and pili torti. 62
426441 1979
161
[Ichthyosis vulgaris, deafness, pili torti and tooth abnormalities]. 62
659109 1978
162
[Menkes' disease (new skin and hair ultrastructural abnormalities) (author's transl)]. 62
707942 1978
163
[The Netherton syndrome with alopecia and prolinuria]. 62
580611 1978
164
Pili torti as marker for carriers of Menkes disease. 62
76144 1978
165
Woolly hair nevus. Two case reports and a discussion of unruly hair forms. 62
147056 1978
166
[Comel's linear circumflex ichthyosis and Netherton's syndrome. General conceptions based on study of 4 cases (author's transl)]. 62
348004 1978
167
Weathering of hair in monilethrix and pili torti. 62
923155 1977
168
Menkes' Kinky hair syndrome: studies of copper metabolism and long term copper therapy. 62
876703 1977
169
A sporadic case of dystrophic pili torti. 62
843455 1977
170
Amelioration by copper supplementation of mutant gene effects in the crinkled mouse. 62
1166079 1975
171
[Corneal lesions in ichthyosis (author's transl)]. 62
1101727 1975
172
Pili torti-congenital and acquired. 62
4127474 1973
173
[Coexistence of developmental hair anomalies (pili torti) and of anomalies of the digestive tract]. 62
5448369 1970
174
[Familial pili torti]. 62
5453961 1970
175
A case of pili torti. 62
5800938 1969
176
[True twisted hair (Galewsky-Ronchese) with involvement of eyebrows and lanugo]. 62
5309394 1969
177
[A case of pili torti]. 62
5622195 1967
178
Pili torti and sensory neural hearing loss. 62
6019757 1967
179
[Apropos of a case of pili torti]. 62
6064330 1967
180
[Black piedra in South Africa. 1st description in a child with bamboo hair, pili torti and congenital erythroderma ichthyosiforme]. 62
13872722 1962
181
Black piedra in a child with pili torti, bamboo hair and congenital ichthyosiform erythroderma. 62
13767211 1961
182
Twisted hairs (pili torti); a pediatric entity. 62
13532154 1958
183
Reconstruction of eyebrows in case of pili torti. 62
13335520 1956
184
[A form of ectodermal dysplasia presenting the picture of pili torti with participation of the eye and disorders in sweat secretion]. 62
14379786 1955
185
Congenital pilar defect showing features of pili torti. 62
13019001 1953
186
Localized Pili Torti. 62
19993732 1950
187
Pili torti and other dysplasias. 62
18933581 1948
188
[Two cases of pili torti]. 62
18892299 1948
189
Pili Torti. 62
19993587 1947
190
Pili torti. 62
21065425 1945
191
Case of Pili Torti. 62
19992778 1944

Variations for Pili Torti, Early-Onset

Expression for Pili Torti, Early-Onset

Search GEO for disease gene expression data for Pili Torti, Early-Onset.

Pathways for Pili Torti, Early-Onset

GO Terms for Pili Torti, Early-Onset

Sources for Pili Torti, Early-Onset

2 CDC
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