Pili Torti, Early-Onset disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of integument

Congenital morphological disturbances of hair, not elsewhere classified

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

SNOMED-CT via HPO ⁶⁹ 103276001 15188001 17170005 more

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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...

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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
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:

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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

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Drugs & Therapeutics for Pili Torti, Early-Onset

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

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Genetic Tests for Pili Torti, Early-Onset

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Anatomical Context for Pili Torti, Early-Onset

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

MalaCards : Skin, Tongue, Eye

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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	Gelles LN	10357309	1999
2	An update of hair shaft disorders. ⁵⁷	Dawber RP	9238334	1996
3	[Neonatal onset of Menkes disease: diagnosis interest of cupremia and microscopic examination of the hairs]. ⁵³ ⁶²	Maury A...Labarthe F	17651950	2007
4	In vivo alteration of the keratin 17 gene in hair follicles by oligonucleotide-directed gene targeting. ⁵³ ⁶²	Fan W...Yoon K	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	McGowan KM...Coulombe PA	10844551	2000
6	Menkes' disease: report of a case and determination of eumelanin and pheomelanin in hypopigmented hair. ⁵³ ⁶²	Tomita Y...Tagami H	1638075	1992
7	Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome. ⁶²	Guo W...Shao L	35960161	2022
8	Usefulness of Trichoscopy over Hair Light Microscopy in Menkes Disease. ⁶²	Saez-de-Ocariz M...Duran-McKinster C	35118132	2022
9	The trichoscopic features of hair shaft anomalies induced by epidermal growth factor receptor inhibitors: A case series. ⁶²	Kremer N...Amitay-Laish I	32244022	2021
10	Pili Torti: A Feature of Numerous Congenital and Acquired Conditions. ⁶²	Hoffmann A...Rudnicka L	34501349	2021
11	Tuning the reversibility of hair artificial muscles by disulfide cross-linking for sensors, switches, and soft robotics. ⁶²	Leng X...Liu Z	34846462	2021
12	Single hair fiber assessment techniques to discriminate between mineral oil and coconut oil effect on hair physical properties. ⁶²	Kaushik V...Mhaskar S	32949101	2021
13	Clinical, trichoscopy, and light microscopic findings in hypohidrotic ectodermal dysplasia: Report of 21 patients and a review of the literature. ⁶²	Pena-Romero AG...Duran-McKinster C	33085121	2021
14	Cutaneous T-cell lymphoma in erythrodermic cases may be suspected on the basis of scalp examination with dermoscopy. ⁶²	Rakowska A...Rudnicka L	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	Liu X...Chen C	33126389	2020
16	Clouston syndrome with pili canaliculi, pili torti, overgrown hyponychium, onycholysis, taurodontism and absence of palmoplantar keratoderma. ⁶²	Kantaputra P...Chuamanochan M	32220018	2020
17	Scanning Electron Microscopy of Subclinical Gefitinib-Induced Hair Changes. ⁶²	de Almeida HL...Zerwes G	33223740	2020
18	Scanning Electron Microscopy of Erlotinib-induced Hair Changes: Pili Torti et Canaliculi. ⁶²	de Almeida HL...Cruz OM	32030058	2019
19	Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease. ⁶²	Olahova M...Sayer JA	31435670	2019
20	Pili Torti as a Sign of Eyebrow Involvement in Frontal Fibrosing Alopecia. ⁶²	Ferrari B...Tosti A	31799271	2019
21	Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. ⁶²	Sharma P...Malicdan MCV	31125343	2019
22	Acquired Pili Torti. ⁶²	Evans JB...Kaffenberger BH	30810707	2019
23	Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships. ⁶²	Baker RA...Mark PR	30582773	2019
24	Trichoscopy in Hair Shaft Disorders. ⁶²	Rudnicka L...Rakowska A	30201151	2018
25	Pili torti, pale and elastic skin, and severe neurological impairment. ⁶²	Gironi LC...Colombo E	29288599	2018
26	Pili torti, bleiche und elastische Haut sowie eine schwere neurologische Beeinträchtigung. ⁶²	Gironi LC...Colombo E	29537163	2018
27	A Point to Note in Pili Torti. ⁶²	Choudhary SV...Singh A	29769787	2018
28	A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1. ⁶²	Florian R...Volc-Platzer B	29265343	2018
29	Long-standing pili torti in 2 patients with chronic graft-vs-host disease. ⁶²	Penzi LR...Senna MM	29296651	2018
30	Trichoscopic Features of Linear Morphea on the Scalp. ⁶²	Saceda-Corralo D...Tosti A	29457011	2018
31	Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings. ⁶²	Falco M...Iolascon A	28322498	2017
32	Morphological analyses in fragility of pili torti with Björnstad syndrome. ⁶²	Marubashi Y...Watanabe D	27882597	2017
33	Loose Anchoring of Anagen Hairs and Pili Torti due to Erlotinib. ⁶²	Pirmez R...Miteva M	28442878	2016
34	Prognosis and Management of Congenital Hair Shaft Disorders with Fragility-Part I. ⁶²	Singh G...Miteva M	27292719	2016
35	Prognosis and Management of Congenital Hair Shaft Disorders without Fragility-Part II. ⁶²	Singh G...Miteva M	27293153	2016
36	Iliac Artery Aneurysms in Menkes Disease: A Case Report. ⁶²	Wichajarn K...Munkong W	29906074	2016
37	The Arid Melancholy-Netherton Syndrome With Protein Energy Malnutrition. ⁶²	Jain SP...Pandey N	27190931	2016
38	Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis. ⁶²	Zhong Z...Chen J	26269244	2016
39	Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). ⁶²	Bree AF...Goltz RW	26858134	2016
40	A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION. ⁶²	Akduman H...Arsan S	30226971	2016
41	Trichoscopic Hair Evaluation in Patients with Ectodermal Dysplasia. ⁶²	Rakowska A...Zadurska M	25935816	2015
42	Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. ⁶²	Zhang J...Tang Z	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	Yoshida K...Niizeki H	25913853	2015
44	Steatocystoma multiplex with hair shaft abnormalities. ⁶²	Pietrzak A...Kanitakis J	25808203	2015
45	Clinical presentation of pili torti--Case report. ⁶²	Yang JJ...Pegas JR	26312667	2015
46	Skin features in myotonic dystrophy type 1: an observational study. ⁶²	Campanati A...Offidani A	25813338	2015
47	Menkes disease in affected females: the clinical disease spectrum. ⁶²	Smpokou P...Lichter-Konecki U	25428120	2015
48	Marie-unna hereditary hypotrichosis. ⁶²	Srinivas SM...Hiremagalore R	25368478	2014
49	Hair curvature: a natural dialectic and review. ⁶²	Nissimov JN...Das Chaudhuri AB	24617997	2014
50	Alopecia in genetic diseases. ⁶²	Calvieri S...Rossi A	24566562	2014
51	Light microscopic hair abnormalities in children: retrospective review of 119 cases in a 10-year period. ⁶²	Shao L...Newell B	24251687	2014
52	Netherton syndrome with pili torti. ⁶²	Srinivas SM...Budamakuntala L	24778540	2013
53	Electro-clinical features and magnetic resonance imaging correlates in Menkes disease. ⁶²	Bindu PS...Bharath RD	22921468	2013
54	A case of pili torti in a young adult domestic short-haired cat. ⁶²	Maina E...Pasquinelli G	23384010	2013
55	Dermoscopy for the pediatric dermatologist part I: dermoscopy of pediatric infectious and inflammatory skin lesions and hair disorders. ⁶²	Haliasos EC...Marghoob AA	23405886	2013
56	Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis. ⁶²	Zhang X...Zhang XJ	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	Farkas K...Szell M	22584530	2012
58	Clinical evaluation of alopecias using a handheld dermatoscope. ⁶²	Karadag Kose O...Gulec AT	22024772	2012
59	Trichoscopy update 2011. ⁶²	Rudnicka L...Slowinska M	22408709	2011
60	Kinky hair, kinky vessels, and bladder diverticula in Menkes disease. ⁶²	Cosimo QC...Giuseppe F	20412396	2011
61	Effects of IGF-binding protein 5 in dysregulating the shape of human hair. ⁶²	Sriwiriyanont P...Kobinger GP	20944648	2011
62	Hair diagnoses and signs: the use of dermatoscopy. ⁶²	Wallace MP...de Berker DA	19549236	2010
63	Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. ⁶²	Dishop MK...Hicks MJ	19697429	2009
64	Pili torti: clinical findings, associated disorders, and new insights into mechanisms of hair twisting. ⁶²	Mirmirani P...Mostow E	19842574	2009
65	Schöpf-Schulz-Passarge syndrome with pili torti: A new association? ⁶²	SZEPETIUK G...NIKKELS AF	19527991	2009
66	[Clinical and laboratory features of the Menkes disease]. ⁶²	Wang XH...Yang XY	19951494	2009
67	Menkes kinky hair disease: A case report. ⁶²	Datta AK...Ghosh M	18801184	2008
68	Trichoscopy in genetic hair shaft abnormalities. ⁶²	Rakowska A...Rudnicka L	21886705	2008
69	Syndromic (phenotypic) diarrhea in early infancy. ⁶²	Goulet O...Cezard JP	18304370	2008
70	Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. ⁶²	Hinson JT...Seidman CE	17314340	2007
71	Clinical and pathological features of pachyonychia congenita. ⁶²	Leachman SA...Lane EB	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	Yang S...Zhang XJ	16185270	2005
73	Low prevalence of twisted hair in anorexia nervosa. ⁶²	Strumia R...Gualandi M	15953065	2005
74	Circumscribed scalp hair loss following multiple hair-cutter ant invasion. ⁶²	Aghaei S...Sodaifi M	15530304	2004
75	[West syndrome as an epileptic presentation in Menkes' disease. Two cases report]. ⁶²	Venta-Sobero JA...Gutierrez-Moctezuma J	15264163	2004
76	Hair and sweat glands in families with hypohidrotic ectodermal dysplasia: further characterization. ⁶²	Rouse C...Nahass G	15262696	2004
77	Hypotrichosis and nail dysplasia: a novel hidrotic ectodermal dysplasia. ⁶²	Harrison S...Sinclair R	15068456	2004
78	Tensile properties of twisted hair fibers. ⁶²	Dankovich TA...Ruetsch S	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	Lurie R...Laron Z	15178913	2004
80	Hair anomalies as a sign of mitochondrial disease. ⁶²	Silengo M...Jarre L	12712334	2003
81	A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy. ⁶²	Indelman M...Sprecher E	12445216	2002
82	Ultrastructural study of acquired pili torti-like hair defects accompanying pseudopelade. ⁶²	Sakamoto F...Saito R	12027083	2002
83	Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome. ⁶²	Richards KA...Mancini AJ	11807445	2002
84	Hair bundle motility induced by chemoreceptors in anemones. ⁶²	Mire P...Nasse J	11788205	2002
85	A case of Netherton's syndrome with cerebral infarction. ⁶²	Calikoglu E...Erdem C	11592518	2001
86	Novel keratin 17 mutations in pachyonychia congenita type 2. ⁶²	Smith FJ...McLean WH	11348474	2001
87	[Sodium valproate-induced kinky hair]. ⁶²	Caneppele S...Bonafe JL	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	Selvaag E	11182937	2000
89	Pili torti and sensorineural hearing loss. A follow-up of Bjørnstad's original patients and a review of the literature. ⁶²	Selvaag E	10694305	2000
90	Sporadic Bazex-Dupré-Christol-like syndrome: early onset basal cell carcinoma, hypohidrosis, hypotrichosis, and prominent milia. ⁶²	Glaessl A...Vogt T	10691946	2000
91	Netherton's syndrome in siblings. ⁶²	Ansai S...Sasaki K	10606859	1999
92	Pili torti with congenital deafness (Bjornstad syndrome): a case report. ⁶²	Loche F...Schwarze HP	10383781	1999
93	[Pilar dysplasia: an early marker of giant axonal neuropathy]. ⁶²	Rybojad M...Evrard P	9922862	1998
94	Rapp-Hodgkin syndrome with palmoplantar keratoderma, glossy tongue, congenital absence of lingual frenum and of sublingual caruncles: newly recognized findings. ⁶²	Kantaputra PN...Vanittanakom P	9779799	1998
95	The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36. ⁶²	Lubianca Neto JF...Seidman JG	9545407	1998
96	A case of probable autosomal recessive ectodermal dysplasia with corkscrew hairs and mental retardation in a family with tuberous sclerosis. ⁶²	Argenziano G...Delfino M	9486713	1998
97	Björnstad syndrome in a patient with mental retardation. ⁶²	Van Buggenhout G...Fryns JP	9777342	1998
98	[Neurocutaneous syndrome with hair alterations]. ⁶²	Camacho-Martinez F	9273169	1997
99	Another "new" form, the palagonia type of acrofacial dysostosis in a Sicilian family. ⁶²	Sorge G...Opitz JM	9098488	1997
100	Scarring folliculitis in the ectrodactyly-ectodermal dysplasia-clefting syndrome. Histologic, scanning electron-microscopic and biophysical studies of hair. ⁶²	Trueb RM...Burg G	9094476	1997
101	Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype. ⁶²	Proud VK...Percy AK	8914740	1996
102	[Structural abnormalities of the hair shaft]. ⁶²	Selvag E	8650658	1996
103	Acquired pili torti--a structural hair shaft defect in anorexia nervosa. ⁶²	Lurie R...Mimouni M	8882012	1996
104	Hypotrichosis, hair structure defects, hypercysteine hair and glucosuria: a new genetic syndrome? ⁶²	Blume-Peytavi U...Orfanos CE	8746349	1996
105	Hair shaft abnormalities: Part I. ⁶²	Rogers M	8593104	1995
106	Helical hairs: a new hair anomaly in a patient with Netherton's syndrome. ⁶²	Lurie R...Garty BZ	7648886	1995
107	Scalp dermatitis, distinctive hair abnormalities and atopic disease in the ectrodactyly-ectodermal dysplasia-clefting syndrome. ⁶²	Trueb RM...Burg G	7748757	1995
108	[Hair disorders and neurological impairments (neurotricosis): three new cases]. ⁶²	Palencia R	7497201	1995
109	Pathogenesis in pili torti: morphological study. ⁶²	Maruyama T...Morohashi M	7528051	1994
110	[Pili torti et canaliculi in ectodermal dysplasia]. ⁶²	Trueb RM...Burg G	8071068	1994
111	[Hair dysplasia in oculo-dento-digital syndrome. Apropos of a mother-daughter case]. ⁶²	Adamski H...Urvoy M	7793757	1994
112	[Follicular atrophoderma, basal cell proliferation and hypotrichosis (Bazex-Dupré-Christol syndrome). A study in 2 families]. ⁶²	Moreau-Cabarrot A...Bazex J	7702247	1994
113	[Bazex-Dupré-Christol syndrome. Follicular atrophoderma, multiple basal cell carcinomas and hypotrichosis]. ⁶²	Herges A...Stadler R	8335462	1993
114	Rapp-Hodgkin syndrome with pili canaliculi. ⁶²	Camacho F...Jorquera E	8493170	1993
115	Pili torti with congenital deafness (Bjornstad's syndrome)--report of three cases in one family, suggesting autosomal dominant transmission. ⁶²	Petit A...Civatte J	8440069	1993
116	Cutaneous findings in a new syndrome of autosomal recessive ectodermal dysplasia with corkscrew hairs. ⁶²	Abramovits-Ackerman W...Ramella M	1479096	1992
117	Familial syndrome of endocrine and neuroectodermal abnormalities. ⁶²	Oerter KE...Cassorla FG	1442893	1992
118	[Multiple woolly hair nevi with linear epidermal nevus and persistent pupillary membrane]. ⁶²	Stieler W...Stadler R	1506203	1992
119	Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities. ⁶²	Shapira SK...Pober BR	1379303	1992
120	Pili torti and onychodysplasia. Report of a previously undescribed hidrotic ectodermal dysplasia. ⁶²	Calzavara-Pinton P...De Panfilis G	1879585	1991
121	[Menkes' kinky hair disease: report of 2 cases]. ⁶²	Wu KH...Chen CW	2178069	1990
122	Serial imaging of Menkes disease. ⁶²	Ichihashi K...Yanagisawa M	2185434	1990
123	[Menkes' kinky hair disease: report of one case]. ⁶²	Lo YS...Tsai JL	2637598	1989
124	The natural history of 'dystrophic' pili torti. ⁶²	Telfer NR...Dawber RP	2923803	1989
125	[Bazex, Dupré and Christol syndrome. Apropos of a case with prolymphocytic leukemia]. ⁶²	Colomb D...Boussuge N	2675736	1989
126	[Bjornstad syndrome]. ⁶²	Baptista A...Resende C	2666787	1989
127	Postmortem Menkes diagnosis from carrier testing of female relatives. ⁶²	Tonnesen T...Horn N	3436089	1987
128	Uncombable-hair syndrome. ⁶²	Matis WL...Hood AF	3422852	1987
129	[Hypotrichosis congenita hereditaria Marie Unna with Ehlers-Danlos syndrome and atopy]. ⁶²	Mende B...Kreysel HW	3692855	1987
130	A child with hair loss. Pili torti, apparently unassociated with other abnormalities. ⁶²	Laub D...Baden HP	3631987	1987
131	Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome? ⁶²	Zlotogora J...Wexler MR	3035184	1987
132	Menkes disease--an autopsy case with metal analysis of hair. ⁶²	Moon HR...Kim SH	3269246	1987
133	Pili torti and hirsuties: are twisted hairs a normal variant? ⁶²	Barth JH...Dawber RP	2449003	1987
134	[Wooly hair syndrome. Clinical and microscopic study]. ⁶²	Lalevic-Vasic B...Polic D	3434941	1987
135	Ectodermal manifestations in Menkes disease. ⁶²	Moore CM...Howell RR	4075564	1985
136	Association of pili torti and leukonychia. ⁶²	Giustina TA...Ellis CN	4017647	1985
137	Acquired pili torti in two patients treated with synthetic retinoids. ⁶²	Hays SB...Camisa C	3859397	1985
138	[Nosographic limits of the Netherton syndrome]. ⁶²	Ottolenghi A...Khodary I	3841392	1985
139	Pili torti in association with citrullinemia. ⁶²	Patel HP...Unis ME	3973120	1985
140	Difficulties in the neonatal diagnosis of Menkes' kinky hair syndrome--trichopoliodystrophy. ⁶²	Gunn TR...Phillips LI	6467787	1984
141	[Menkes syndrome: review of the pathogenesis apropos of a clinico-pathological case]. ⁶²	Reed UC...Lefevre AB	6497717	1984
142	Pathogenesis in trichorrhexis invaginata (bamboo hair). ⁶²	Ito M...Hashimoto K	6547464	1984
143	[A new case of Menkes syndrome. Prenatal exclusion diagnosis in a subsequent pregnancy]. ⁶²	Dabadie A...Senecal J	6739227	1984
144	Björnstad syndrome and pili torti. ⁶²	Scott MJ...Esterly NB	6679889	1983
145	[Woolly hair. Apropos of 5 cases]. ⁶²	Rodriguez Pichardo A...Mascaro JM	6366396	1983
146	A case of hyperkeratosis palmoplantaris striata combined with pili torti, hypohidrosis, hypodontia and hypacusis. ⁶²	Egelund E...Frentz G	6217715	1982
147	Neurotrichosis: hair-shaft abnormalities associated with neurological diseases. ⁶²	Coulter DL...Allen RJ	7141120	1982
148	SEM analysis of body hairs and whiskers of heterozygous tortoiseshell (Moto/+) female mice (Mus musculus). ⁶²	Sheedlo HJ...Beck ML	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	Braun-Falco O...Ring J	7107281	1982
150	Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome. ⁶²	Silengo MC...Franceschini P	7116674	1982
151	Menkes' syndrome (trichopoliodystrophy): use of scanning electron-microscope in diagnosis and carrier identification. ⁶²	Taylor CJ...Green SH	7250545	1981
152	Arginosuccinic aciduria with pili torti. ⁶²	Phillips ME...Cream JJ	7205861	1981
153	[Cutaneous manifestations of McCune-Albright syndrome: report of a case (author's transl)]. ⁶²	Pierini AM...Floret D	7337370	1981
154	[Clinical features and genetics of the ichthyosis vulgaris group]. ⁶²	Traupe H...Happle R	7274918	1980
155	[X-linked dominant chondrodysplasia punctata (author's transl)]. ⁶²	Happle R	7366591	1980
156	Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities. A link between the ichthyosis-associated and BIDS syndromes. ⁶²	Jorizzo JL...Wheeler CE	7364988	1980
157	[Menkes' syndrome with alternating pili torti]. ⁶²	Dupre A...Enjolras O	7387060	1980
158	[Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)]. ⁶²	Spiegl B...Hundeiker M	511082	1979
159	Pili torti with deafness (Bjørnstad syndrome). Report of a family. ⁶²	Voigtlander V	478043	1979
160	Sensorineural hearing loss and pili torti. ⁶²	Cremers CW...Geerts SJ	426441	1979
161	[Ichthyosis vulgaris, deafness, pili torti and tooth abnormalities]. ⁶²	Braun-Falco O...Landthaler M	659109	1978
162	[Menkes' disease (new skin and hair ultrastructural abnormalities) (author's transl)]. ⁶²	Enjolras O...Le Charpentier Y	707942	1978
163	[The Netherton syndrome with alopecia and prolinuria]. ⁶²	Michalowski R...Kucharska D	580611	1978
164	Pili torti as marker for carriers of Menkes disease. ⁶²	Collie WR...Howell RR	76144	1978
165	Woolly hair nevus. Two case reports and a discussion of unruly hair forms. ⁶²	Lantis SD...Pepper MC	147056	1978
166	[Comel's linear circumflex ichthyosis and Netherton's syndrome. General conceptions based on study of 4 cases (author's transl)]. ⁶²	Dupre A...Carrere S	348004	1978
167	Weathering of hair in monilethrix and pili torti. ⁶²	Dawber RP	923155	1977
168	Menkes' Kinky hair syndrome: studies of copper metabolism and long term copper therapy. ⁶²	Williams DM...Bray PF	876703	1977
169	A sporadic case of dystrophic pili torti. ⁶²	Lyon JB...Dawber RP	843455	1977
170	Amelioration by copper supplementation of mutant gene effects in the crinkled mouse. ⁶²	Hurley LS...Bell LT	1166079	1975
171	[Corneal lesions in ichthyosis (author's transl)]. ⁶²	Hammerstein W...Haensch R	1101727	1975
172	Pili torti-congenital and acquired. ⁶²	Kurwa AR...Abdel-Aziz AH	4127474	1973
173	[Coexistence of developmental hair anomalies (pili torti) and of anomalies of the digestive tract]. ⁶²	Flaszen A...Kozlowski K	5448369	1970
174	[Familial pili torti]. ⁶²	Moulin MG	5453961	1970
175	A case of pili torti. ⁶²	Kingsley HJ	5800938	1969
176	[True twisted hair (Galewsky-Ronchese) with involvement of eyebrows and lanugo]. ⁶²	Zaun H...Burg G	5309394	1969
177	[A case of pili torti]. ⁶²	Thiers H...Effat K	5622195	1967
178	Pili torti and sensory neural hearing loss. ⁶²	Robinson GC...Johnston MM	6019757	1967
179	[Apropos of a case of pili torti]. ⁶²	Thiers H...Effat K	6064330	1967
180	[Black piedra in South Africa. 1st description in a child with bamboo hair, pili torti and congenital erythroderma ichthyosiforme]. ⁶²	BREDE HD...MARSHALL J	13872722	1962
181	Black piedra in a child with pili torti, bamboo hair and congenital ichthyosiform erythroderma. ⁶²	MARSHALL J...BREDE HD	13767211	1961
182	Twisted hairs (pili torti); a pediatric entity. ⁶²	NICHAMIN SJ	13532154	1958
183	Reconstruction of eyebrows in case of pili torti. ⁶²	TANZER RC	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	FRIEDERICH HC...SEITZ R	14379786	1955
185	Congenital pilar defect showing features of pili torti. ⁶²	MARTIN-SCOTT I	13019001	1953
186	Localized Pili Torti. ⁶²	Scott OL	19993732	1950
187	Pili torti and other dysplasias. ⁶²	TOURAINE A...BAILLET P	18933581	1948
188	[Two cases of pili torti]. ⁶²	VAKANOV B...IVANOV I	18892299	1948
189	Pili Torti. ⁶²	Mitchell-Heggs GB...May WR	19993587	1947
190	Pili torti. ⁶²	TOURAINE A...DUPERRAT	21065425	1945
191	Case of Pili Torti. ⁶²	Griffith G	19992778	1944

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Genes for Pili Torti, Early-Onset

Genes related to Pili Torti, Early-Onset (0 elite genes):

(showing 2, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KRT17	Keratin 17	Protein Coding	9.86	Novoseek inferred ⁵³	14714564 10844551
2	CP	Ceruloplasmin	Protein Coding	9.07	Novoseek inferred ⁵³	1638075 17651950

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Variations for Pili Torti, Early-Onset

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Expression for Pili Torti, Early-Onset

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

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Pathways for Pili Torti, Early-Onset

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GO Terms for Pili Torti, Early-Onset

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MCID: PLT022 MIFTS: 33	Pili Torti, Early-Onset Categories: Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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