PSEUDOPILI ANNULATI

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 613241
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Sporadic
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0100037) Abnormality of the scalp hair 6 / 7739
2
(HPO:0010719) Abnormality of hair texture 24 / 7739
3
(OMIM) Hair shaft shows partial twisting on its axis (periodicity of 1 to 2 mm) 1 / 7739
4
(OMIM) Hair may appear alternating shiny and dull 1 / 7739
5
(HPO:0003745) Sporadic 131 / 7739
6
(OMIM) Scalp hair appears banded, with alternating light and dark segments 2 / 7739
7
(OMIM) Reflected light shows bright and dark bands 2 / 7739
8
(OMIM) Hairs have elliptical diameter with flattened surface 1 / 7739
9
(OMIM) Transmitted light shows no banding or inhomogeneities 1 / 7739
10
(HPO:0003593) Infantile onset 249 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Pseudopili annulati is an unusual variant of normal hair characterized by a banded appearance of the hair under reflective light, as observed in pili annulati (180600), but resulting from a distinct underlying physical defect. There is no increased ...
Clinical Description OMIM Price et al. (1970) reported a 9-year-old girl with blond hair whose scalp hair showed light and dark banding since infancy. Light microscopy showed that the banding appeared only if the light struck the hair at right angles ...