Pilomatrixoma

General Information (adopted from Orphanet):

Synonyms, Signs: PTR
pilomatricoma
epithelioma calcificans of malherbe
Number of Symptoms 12
OrphanetNr: 91414
OMIM Id: 132600
ICD-10: D23
UMLs: C0206711
MeSH: D018296
MedDRA: 10035040
Snomed: 274901004
44155009

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: Rare skin tumor or hamartoma
 -Rare oncologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (OMIM) Superficial, firm, circumscribed nodule 1 / 7739
2
 (OMIM) Inner zone of enucleated 'shadow' cells 1 / 7739
3
 (OMIM) Derived from hair matrix cells 1 / 7739
4
 (OMIM) Histology shows exterior zone of densely packed, small basophilic cells 1 / 7739
5
 (OMIM) Usually occurs in the head and neck area 1 / 7739
6
 (OMIM) Pilomatrixoma 1 / 7739
7
 (OMIM) Transitional zone of cells with gradual loss of nuclei 1 / 7739
8
 (OMIM) Proliferating cells show nuclear expression of lymphoid enhancer binding factor-1 (LEF1, 153245) 1 / 7739
9
 (HPO:0001428) Somatic mutation 100 / 7739
10
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
 (OMIM) Calcification may occur 1 / 7739
12
 (HPO:0030434) Pilomatrixoma 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Pilomatrixoma is the term used by Jones and Campbell (1969) for this tumor. The lesions are firm, circumscribed tumors, usually in the head and neck area, which feel like buttons and are attached to the subcutaneous tissue and ...
Molecular genetics OMIM In patients with pilomatrixoma, Chan et al. (1999) identified mutations in the beta-catenin gene (e.g., 116806.0002). Moreno-Bueno et al. (2001) analyzed the expression pattern of beta-catenin in normal anagen hair follicles and in 40 human pilomatrixomas by immunohistochemistry. ...