MCID: RNG030
MIFTS: 26

Ringed Hair

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Ringed Hair

MalaCards integrated aliases for Ringed Hair:

Name: Ringed Hair 58 54
Pili Annulati 58 54 60 74
Ringed Hair Disease 77 54 60
Pilli Annulati 54

Characteristics:

Orphanet epidemiological data:

60
ringed hair disease
Inheritance: Autosomal dominant,Not applicable; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or early childhood
usually no increased fragility of hair
distinct from pseudopili annulati


HPO:

33
ringed hair:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 180600
MESH via Orphanet 46 C537187
ICD10 via Orphanet 35 Q84.1
UMLS via Orphanet 75 C0263489
Orphanet 60 ORPHA169
MedGen 43 C0263489
SNOMED-CT via HPO 70 247546006 263681008
UMLS 74 C0263489

Summaries for Ringed Hair

NIH Rare Diseases : 54 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.  Pili annulati can present in infancy, childhood, or later in life. 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 eye, skin and cortex, and related phenotypes are fine hair and abnormal hair pattern

OMIM : 58 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)

Wikipedia : 77 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:

# Related Disease Score Top Affiliating Genes
1 pilodental dysplasia with refractive errors 11.4
2 pseudopili annulati 11.4
3 alopecia 10.6
4 alopecia areata 10.6
5 monilethrix 10.2
6 rothmund-thomson syndrome 10.2
7 trichothiodystrophy 1, photosensitive 10.2
8 immunoglobulin alpha deficiency 10.2
9 hypotrichosis 10.2
10 trichostasis spinulosa 10.2

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:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fine hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002213
2 abnormal hair pattern 60 33 hallmark (90%) Very frequent (99-80%) HP:0010720
3 abnormal hair morphology 33 HP:0001595

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Ringed Hair

Search Clinical Trials , NIH Clinical Center for Ringed Hair

Genetic Tests for Ringed Hair

Anatomical Context for Ringed Hair

MalaCards organs/tissues related to Ringed Hair:

42
Eye, Skin, Cortex, Thyroid

Publications for Ringed Hair

Articles related to Ringed Hair:

(show all 36)
# Title Authors Year
1
Pili Annulati with Severe Trichorrhexis Nodosa: A Case Report and Review of the Literature. ( 30815447 )
2019
2
Pili annulati in a case of Rothmund-Thomson syndrome with a novel frameshift mutation in RECQL4. ( 29224249 )
2018
3
Pili Annulati with Multiple Fragile Hairs. ( 28392665 )
2017
4
Pili Annulati and Trichorrhexis Nodosa in the Same Patient: Cause or Coincidence? ( 27171552 )
2015
5
Pili annulati masquerading as hypotrichosis. ( 23819454 )
2013
6
Pili annulati: a report of 2 American families. ( 23772432 )
2013
7
Pili annulati associated with hair fragility: cause or coincidence? ( 23461057 )
2013
8
Pili annulati coincident with alopecia areata, autoimmune thyroid disease, and primary IgA deficiency: case report and considerations on the literature. ( 23275769 )
2012
9
The appearance of pili annulati following alopecia areata. ( 22530334 )
2012
10
Pili annulati with fragility: Electron microscopic findings of a case. ( 23180916 )
2012
11
Pili annulati--what about racial distribution? ( 22948060 )
2012
12
Concomitant manifestation of pili annulati and alopecia areata: coincidental rather than true association. ( 21537827 )
2011
13
Pili annulati: refinement of the locus on chromosome 12q24.33 to a 2.9-Mb interval and candidate gene analysis. ( 19067701 )
2009
14
Study of nanomechanical properties of human hair shaft in a case of pili annulati by atomic force microscopy. ( 17714137 )
2007
15
Cytokeratin expression in pili annulati hair follicles. ( 15953087 )
2005
16
A gene locus responsible for the familial hair shaft abnormality pili annulati maps to chromosome 12q24.32-24.33. ( 15610517 )
2004
17
A gene for pili annulati maps to the telomeric region of chromosome 12q. ( 15610516 )
2004
18
Update on detection, morphology and fragility in pili annulati in three kindreds. ( 15482289 )
2004
19
Alterations in the basement membrane zone in pili annulati hair follicles as demonstrated by electron microscopy and immunohistochemistry. ( 15099369 )
2004
20
Disappearance of pili annulati following an episode of alopecia areata. ( 12372084 )
2002
21
Newly described weathering pattern in pili annulati hair shafts: a scanning electron microscopic study. ( 11568760 )
2001
22
Pili annulati coincident with alopecia areata. ( 9720689 )
1998
23
Hair abnormality present since childhood. Pili annulati. ( 8624159 )
1996
24
Alopecia areata in a patient with pili annulati. ( 7722034 )
1995
25
Review and new case reports on scanning electron microscopy of pili annulati, Monilethrix and Trichothiodystrophy. ( 1462138 )
1992
26
Pathogenesis of pili annulati. ( 2460036 )
1988
27
Pili annulati. Optical and scanning electron microscopic studies. ( 3391716 )
1988
28
Pili annulati: electron histochemical studies on affected hairs. ( 7272210 )
1981
29
Investigations of a family with pili annulati associated with blue naevi. ( 5038603 )
1972
30
Pili annulati. ( 5470983 )
1970
31
Pili annulati. Optical and electron microscopic studies. ( 5697235 )
1968
32
Ringed hair; report of a case. ( 14360775 )
1955
33
Four generations of ringed hair. ( 15422119 )
1950
34
Multiple simultaneous anomalies of the hair; report of a case exhibiting trichorrhexis nodosa, pili annulati and trichostasis spinulosa. ( 14770484 )
1950
35
On the manifestation of ringed hair in a mother and daughter. ( 18101675 )
1948
36
Ringed hair; report of a case. ( 18110544 )
1948

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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