MCID: RNG030
MIFTS: 26

Ringed Hair

Categories: Rare diseases, Skin diseases
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Aliases & Classifications for Ringed Hair

MalaCards integrated aliases for Ringed Hair:

Name: Ringed Hair 57 19 75
Pili Annulati 57 19 58 71 75
Ringed Hair Disease 19 58 75
Pilli Annulati 19

Characteristics:


Inheritance:

Ringed Hair: Autosomal dominant 57
Ringed Hair Disease: Autosomal dominant 58

Age Of Onset:

Ringed Hair Disease: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy or early childhood
usually no increased fragility of hair
distinct from pseudopili annulati


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 180600
MESH via Orphanet 44 C537187
ICD10 via Orphanet 32 Q84.1
UMLS via Orphanet 72 C0263489
Orphanet 58 ORPHA169
MedGen 40 C0263489
SNOMED-CT via HPO 69 247546006
UMLS 71 C0263489

Summaries for Ringed Hair

GARD: 19 "Pili annulati is a hair disorder. In Pili annulati, affected hair has a pattern of light and dark banding. People with Pili annulati may describe their hair as ""striped"" or as having silvery beads. Pili annulati typically involves 20-80% of scalp hair, however it can involve facial and body hair as well. Affected hairs may be more prone to breakage. It can be seen with the naked eye, however it may be more difficult to see in people with dark hair. Diagnosis is confirmed by polariscopic and/or electron microscopic examination of affected hairs. The condition runs in an autosomal dominant fashion in some families. Reduced penetrance and variable expression has been described. Sporadic cases have also been reported."

MalaCards based summary: Ringed Hair, also known as pili annulati, is related to pilodental dysplasia with refractive errors and pseudopili annulati. Affiliated tissues include skin, cortex and eye, and related phenotypes are fine hair and abnormal hair pattern

Orphanet: 58 A rare isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or, very rarely, beard, axillary, or pubic hair. Hair is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases.

OMIM®: 57 Pili annulati, or 'ringed hair,' is a disorder in which scalp hairs show alternating light and dark bands. It is often an incidental finding, and the hair usually does not show increased fragility (Green et al., 2004). See also pseudopili annulati (613241), a distinct entity. (180600) (Updated 08-Dec-2022)

Wikipedia: 75 Pili annulati (also known as "ringed hair") is a genetic trait in which the hair seems ‘banded‘ by... more...

Related Diseases for Ringed Hair

Diseases related to Ringed Hair via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 pilodental dysplasia with refractive errors 11.4
2 pseudopili annulati 11.2
3 alopecia areata 10.5
4 alopecia 10.5
5 hair disease 10.4
6 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
7 autoimmune disease 10.1
8 monilethrix 10.1
9 alopecia universalis congenita 10.1
10 rothmund-thomson syndrome, type 2 10.1
11 hypotrichosis 7 10.1
12 immunoglobulin alpha deficiency 10.1
13 trichothiodystrophy 10.1
14 hypothyroidism 10.1
15 hypotrichosis 10.1
16 alopecia totalis 10.1
17 trichostasis spinulosa 10.1

Graphical network of the top 20 diseases related to Ringed Hair:



Diseases related to Ringed Hair

Symptoms & Phenotypes for Ringed Hair

Human phenotypes related to Ringed Hair:

58 30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fine hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002213
2 abnormal hair pattern 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010720
3 abnormal hair morphology 30 HP:0001595

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin Nails Hair Hair:
scalp hair appears banded, with alternating light and dark segments
bands are due to air spaces in cortex of hair
hair shows normal, constant diameter along shaft
hair is not twisted
reflected light shows bright and dark bands
more

Clinical features from OMIM®:

180600 (Updated 08-Dec-2022)

Drugs & Therapeutics for Ringed Hair

Search Clinical Trials, NIH Clinical Center for Ringed Hair

Genetic Tests for Ringed Hair

Anatomical Context for Ringed Hair

Organs/tissues related to Ringed Hair:

MalaCards : Skin, Cortex, Eye, Thyroid

Publications for Ringed Hair

Articles related to Ringed Hair:

(show top 50) (show all 64)
# Title Authors PMID Year
1
A gene for pili annulati maps to the telomeric region of chromosome 12q. 62 57
15610516 2004
2
Pili annulati. Optical and electron microscopic studies. 62 57
5697235 1968
3
Four generations of ringed hair. 62 57
15422119 1950
4
Transmission electron microscopy of pili annulati. 62
36100477 2022
5
Scanning Electron Microscopy of the Inner and Outer Aspects of Tiger Tail Hairs. 62
36404880 2022
6
A New Splice-site Mutation of SPINK5 Gene in the Netherton Syndrome with Different Clinical Features: A Case Report. 62
32953415 2020
7
Pili Annulati with Severe Trichorrhexis Nodosa: A Case Report and Review of the Literature. 62
30815447 2019
8
Trichoscopy in Hair Shaft Disorders. 62
30201151 2018
9
Pili annulati in a case of Rothmund-Thomson syndrome with a novel frameshift mutation in RECQL4. 62
29224249 2018
10
[Pili Annulati]. 62
28109542 2017
11
Pili Annulati with Multiple Fragile Hairs. 62
28392665 2017
12
Prognosis and Management of Congenital Hair Shaft Disorders with Fragility-Part I. 62
27292719 2016
13
Prognosis and Management of Congenital Hair Shaft Disorders without Fragility-Part II. 62
27293153 2016
14
Pili Annulati and Trichorrhexis Nodosa in the Same Patient: Cause or Coincidence? 62
27171552 2015
15
Alopecia in genetic diseases. 62
24566562 2014
16
Microscopic hair changes associated with hair coloring, hair waving and hair ironing in Iranian women. 62
24506020 2013
17
Pili annulati masquerading as hypotrichosis. 62
23819454 2013
18
Pili annulati: a report of 2 American families. 62
23772432 2013
19
Dermoscopy for the pediatric dermatologist part I: dermoscopy of pediatric infectious and inflammatory skin lesions and hair disorders. 62
23405886 2013
20
Pili annulati associated with hair fragility: cause or coincidence? 62
23461057 2013
21
Pili annulati coincident with alopecia areata, autoimmune thyroid disease, and primary IgA deficiency: case report and considerations on the literature. 62
23275769 2012
22
Pili annulati--what about racial distribution? 62
22948060 2012
23
Pili annulati with fragility: Electron microscopic findings of a case. 62
23180916 2012
24
The appearance of pili annulati following alopecia areata. 62
22530334 2012
25
Trichoscopy update 2011. 62
22408709 2011
26
Concomitant manifestation of pili annulati and alopecia areata: coincidental rather than true association. 62
21537827 2011
27
Hair diagnoses and signs: the use of dermatoscopy. 62
19549236 2010
28
Phenotypes of the ovarian follicular basal lamina predict developmental competence of oocytes. 62
19095662 2009
29
Pili annulati: refinement of the locus on chromosome 12q24.33 to a 2.9-Mb interval and candidate gene analysis. 62
19067701 2009
30
Trichoscopy in genetic hair shaft abnormalities. 62
21886705 2008
31
Trichoscopy: a new method for diagnosing hair loss. 62
18664157 2008
32
Study of nanomechanical properties of human hair shaft in a case of pili annulati by atomic force microscopy. 62
17714137 2007
33
Cytokeratin expression in pili annulati hair follicles. 62
15953087 2005
34
A gene locus responsible for the familial hair shaft abnormality pili annulati maps to chromosome 12q24.32-24.33. 62
15610517 2004
35
Update on detection, morphology and fragility in pili annulati in three kindreds. 62
15482289 2004
36
Alterations in the basement membrane zone in pili annulati hair follicles as demonstrated by electron microscopy and immunohistochemistry. 62
15099369 2004
37
Disappearance of pili annulati following an episode of alopecia areata. 62
12372084 2002
38
Newly described weathering pattern in pili annulati hair shafts: a scanning electron microscopic study. 62
11568760 2001
39
Pili annulati coincident with alopecia areata. 62
9720689 1998
40
Cuticle cell defects in lamellar ichthyosis hair and anomalous hair shaft syndromes visualized after detergent extraction. 62
8955782 1996
41
Hair abnormality present since childhood. Pili annulati. 62
8624159 1996
42
Hair shaft abnormalities: Part II. 62
8936064 1996
43
Alopecia areata in a patient with pili annulati. 62
7722034 1995
44
[Hair dysplasia in oculo-dento-digital syndrome. Apropos of a mother-daughter case]. 62
7793757 1994
45
Review and new case reports on scanning electron microscopy of pili annulati, Monilethrix and Trichothiodystrophy. 62
1462138 1992
46
[Structural and ultrastructural study of an isolated case of pili annulati]. 62
2079348 1990
47
Pili annulati. Optical and scanning electron microscopic studies. 62
3391716 1988
48
[Pili annulati: a familial case]. 62
3417332 1988
49
Pathogenesis of pili annulati. 62
2460036 1988
50
[Pili annulati. A scanning electron microscopy study]. 62
3415147 1988

Variations for Ringed Hair

Expression for Ringed Hair

Search GEO for disease gene expression data for Ringed Hair.

Pathways for Ringed Hair

GO Terms for Ringed Hair

Sources for Ringed Hair

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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