Ringed hair disease

General Information (adopted from Orphanet):

Synonyms, Signs: pili annulati
Number of Symptoms 10
OrphanetNr: 169
OMIM Id: 180600
ICD-10: Q84.1
UMLs: C0263489
MeSH: C537187
MedDRA:
Snomed: 21926007

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Isolated hair shaft abnormality
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0010719) Abnormality of hair texture Very frequent [Orphanet] 24 / 7739
2
(HPO:0001595) Abnormality of the hair 89 / 7739
3
(HPO:0002213) Fine hair Very frequent [Orphanet] 77 / 7739
4
(OMIM) Scalp hair appears banded, with alternating light and dark segments 2 / 7739
5
(OMIM) Transmitted light shows opposite light and dark bands those seen with reflected light 1 / 7739
6
(OMIM) Reflected light shows bright and dark bands 2 / 7739
7
(OMIM) Bands are due to air spaces in cortex of hair 1 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
(OMIM) Hair shows normal, constant diameter along shaft 1 / 7739
10
(OMIM) Hair is not twisted 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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). ...
Clinical Description OMIM Cady and Trotter (1920) reported 3 unrelated families with ringed hair. The condition was restricted to hairs on the scalp. Based on refractive patterns under transmitted and reflective light, Cady and Trotter (1920) concluded that the light areas ...