TRICHILEMMAL CYST 1

General Information (adopted from Orphanet):

Synonyms, Signs: TRICHOLEMMAL CYST
TRICY1
PILAR CYST
Number of Symptoms 14
OrphanetNr:
OMIM Id: 609649
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000951) Abnormality of the skin 147 / 7739
2
(OMIM) Cysts may gradually increase in size 1 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(OMIM) Cysts are lined by epidermal cells 1 / 7739
5
(OMIM) Cysts may disappear on their own (10%) 1 / 7739
6
(OMIM) Cysts may become infected (15%) 1 / 7739
7
(OMIM) Cysts are firm and smooth 1 / 7739
8
(OMIM) Cyst occur most often on the scalp (89%) 1 / 7739
9
(OMIM) Cysts may be solitary (30%) 1 / 7739
10
(OMIM) Cysts may contain degenerated keratin 1 / 7739
11
(OMIM) Cysts occur less commonly on any part of the body where hair grows 1 / 7739
12
(OMIM) Trichilemmal cysts 1 / 7739
13
(OMIM) Cysts may become calcified 1 / 7739
14
(OMIM) Cysts may be multiple (70%) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Trichilemmal cysts, also known as pilar cysts or tricholemmal cysts, are derived from the outer root sheath of the deeper parts of a hair follicle and consist of a well-keratinized epidermal wall surrounding semisolid hair keratin. They occur ...
Clinical Description OMIM Eiberg et al. (2005) reported a Danish family in which 11 members had trichilemmal cysts inherited in an autosomal dominant pattern. The cysts most often appeared in adolescence, only occurred on the scalp, were predominantly solitary, and only ...