MCID: RNG030
MIFTS: 25

Ringed Hair

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Ringed Hair

MalaCards integrated aliases for Ringed Hair:

Name: Ringed Hair 56 52
Pili Annulati 56 52 58 71
Ringed Hair Disease 74 52 58
Pilli Annulati 52

Characteristics:

Orphanet epidemiological data:

58
ringed hair disease
Inheritance: Autosomal dominant,Not applicable; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
ringed hair:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 180600
MESH via Orphanet 44 C537187
ICD10 via Orphanet 33 Q84.1
UMLS via Orphanet 72 C0263489
Orphanet 58 ORPHA169
MedGen 41 C0263489
SNOMED-CT via HPO 68 247546006 263681008
UMLS 71 C0263489

Summaries for Ringed Hair

NIH Rare Diseases : 52 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 : 56 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 : 74 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 14)
# Related Disease Score Top Affiliating Genes
1 pilodental dysplasia with refractive errors 11.5
2 pseudopili annulati 11.5
3 alopecia areata 10.7
4 alopecia 10.7
5 autoimmune disease 10.3
6 monilethrix 10.3
7 alopecia universalis congenita 10.3
8 rothmund-thomson syndrome, type 2 10.3
9 trichothiodystrophy 1, photosensitive 10.3
10 immunoglobulin alpha deficiency 10.3
11 hypotrichosis 10.3
12 diabetes mellitus 10.3
13 alopecia totalis 10.3
14 trichostasis spinulosa 10.3

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 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fine hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002213
2 abnormal hair pattern 58 31 hallmark (90%) Very frequent (99-80%) HP:0010720
3 abnormal hair morphology 31 HP:0001595

Symptoms via clinical synopsis from OMIM:

56
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:

40
Eye, Skin, Cortex, Thyroid

Publications for Ringed Hair

Articles related to Ringed Hair:

(show top 50) (show all 61)
# Title Authors PMID Year
1
A gene for pili annulati maps to the telomeric region of chromosome 12q. 61 56
15610516 2004
2
Pili annulati. Optical and electron microscopic studies. 61 56
5697235 1968
3
Four generations of ringed hair. 61 56
15422119 1950
4
Pili Annulati with Severe Trichorrhexis Nodosa: A Case Report and Review of the Literature. 61
30815447 2019
5
Trichoscopy in Hair Shaft Disorders. 61
30201151 2018
6
Pili annulati in a case of Rothmund-Thomson syndrome with a novel frameshift mutation in RECQL4. 61
29224249 2018
7
[Pili Annulati]. 61
28109542 2017
8
Pili Annulati with Multiple Fragile Hairs. 61
28392665 2017
9
Prognosis and Management of Congenital Hair Shaft Disorders with Fragility-Part I. 61
27292719 2016
10
Prognosis and Management of Congenital Hair Shaft Disorders without Fragility-Part II. 61
27293153 2016
11
Pili Annulati and Trichorrhexis Nodosa in the Same Patient: Cause or Coincidence? 61
27171552 2015
12
Alopecia in genetic diseases. 61
24566562 2014
13
Microscopic hair changes associated with hair coloring, hair waving and hair ironing in Iranian women. 61
24506020 2013
14
Pili annulati masquerading as hypotrichosis. 61
23819454 2013
15
Pili annulati: a report of 2 American families. 61
23772432 2013
16
Dermoscopy for the pediatric dermatologist part I: dermoscopy of pediatric infectious and inflammatory skin lesions and hair disorders. 61
23405886 2013
17
Pili annulati associated with hair fragility: cause or coincidence? 61
23461057 2013
18
Pili annulati coincident with alopecia areata, autoimmune thyroid disease, and primary IgA deficiency: case report and considerations on the literature. 61
23275769 2012
19
Pili annulati--what about racial distribution? 61
22948060 2012
20
Pili annulati with fragility: Electron microscopic findings of a case. 61
23180916 2012
21
The appearance of pili annulati following alopecia areata. 61
22530334 2012
22
Trichoscopy update 2011. 61
22408709 2011
23
Concomitant manifestation of pili annulati and alopecia areata: coincidental rather than true association. 61
21537827 2011
24
Hair diagnoses and signs: the use of dermatoscopy. 61
19549236 2010
25
Phenotypes of the ovarian follicular basal lamina predict developmental competence of oocytes. 61
19095662 2009
26
Pili annulati: refinement of the locus on chromosome 12q24.33 to a 2.9-Mb interval and candidate gene analysis. 61
19067701 2009
27
Trichoscopy in genetic hair shaft abnormalities. 61
21886705 2008
28
Trichoscopy: a new method for diagnosing hair loss. 61
18664157 2008
29
Study of nanomechanical properties of human hair shaft in a case of pili annulati by atomic force microscopy. 61
17714137 2007
30
Cytokeratin expression in pili annulati hair follicles. 61
15953087 2005
31
A gene locus responsible for the familial hair shaft abnormality pili annulati maps to chromosome 12q24.32-24.33. 61
15610517 2004
32
Update on detection, morphology and fragility in pili annulati in three kindreds. 61
15482289 2004
33
Alterations in the basement membrane zone in pili annulati hair follicles as demonstrated by electron microscopy and immunohistochemistry. 61
15099369 2004
34
Disappearance of pili annulati following an episode of alopecia areata. 61
12372084 2002
35
Newly described weathering pattern in pili annulati hair shafts: a scanning electron microscopic study. 61
11568760 2001
36
Pili annulati coincident with alopecia areata. 61
9720689 1998
37
Cuticle cell defects in lamellar ichthyosis hair and anomalous hair shaft syndromes visualized after detergent extraction. 61
8955782 1996
38
Hair abnormality present since childhood. Pili annulati. 61
8624159 1996
39
Hair shaft abnormalities: Part II. 61
8936064 1996
40
Alopecia areata in a patient with pili annulati. 61
7722034 1995
41
[Hair dysplasia in oculo-dento-digital syndrome. Apropos of a mother-daughter case]. 61
7793757 1994
42
Review and new case reports on scanning electron microscopy of pili annulati, Monilethrix and Trichothiodystrophy. 61
1462138 1992
43
[Structural and ultrastructural study of an isolated case of pili annulati]. 61
2079348 1990
44
Pili annulati. Optical and scanning electron microscopic studies. 61
3391716 1988
45
[Pili annulati: a familial case]. 61
3417332 1988
46
[Pili annulati. A scanning electron microscopy study]. 61
3415147 1988
47
Pathogenesis of pili annulati. 61
2460036 1988
48
[Pili annulati: study of a family with ultrastructural research]. 61
3679294 1987
49
A new syndrome in the group of euhidrotic ectodermal dysplasia. Pilodental dysplasia with refractive errors. 61
4018802 1985
50
[Pili annulati]. 61
6530240 1984

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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