Familial cylindromatosis

General Information (adopted from Orphanet):

Synonyms, Signs: TURBAN TUMOR&#39
SYNDROME
ANCELL-SPIEGLER CYLINDROMAS
CYLINDROMAS, DERMAL ECCRINE
&#39
Turban tumor syndrome
Number of Symptoms 11
OrphanetNr: 211
OMIM Id: 132700
ICD-10:
UMLs: C1704217
C1851526
MeSH: C536611
MedDRA:
Snomed: 211710004

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Brooke-Spiegler syndrome
 -Rare eye disease
 -Rare genetic disease
 -Rare oncologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0001965) Abnormality of the scalp Very frequent [Orphanet] 10 / 7739
2
 (HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
3
 (HPO:0100585) Telangiectasia of the skin Very frequent [Orphanet] 66 / 7739
4
 (HPO:0008069) Neoplasm of the skin Very frequent [Orphanet] 84 / 7739
5
 (OMIM) Cylindromas may show malignant transformation 1 / 7739
6
 (HPO:0003581) Adult onset 117 / 7739
7
 (OMIM) Cylindromas usually occur on the scalp may coalesce into large 'turban tumors' 1 / 7739
8
 (OMIM) Cells appear to be of glandular origin 1 / 7739
9
 (OMIM) Cylindromas, multiple (face, trunk and extremities) 2 / 7739
10
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
 (OMIM) Mosaic-like masses of epithelial cells surrounded by thin layers of PAS-positive stroma 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The disorders classically referred to as familial cylindromatosis, Brooke-Spiegler syndrome, and multiple familial trichoepithelioma were originally described as distinct clinical entities. Patients with BRSS develop multiple skin appendage tumors including cylindromas, trichoepitheliomas, and spiradenomas. Patients with familial cylindromatosis ...
Clinical Description OMIM Ancell (1842) and Spiegler (1899) described a familial syndrome characterized by tumors of skin appendages, now known as cylindromas (Lee et al., 2005).

Baden (1962) noted that cylindromatosis can clinically resemble neurofibromatosis (NF1; 162200).

...
Molecular genetics OMIM Bignell et al. (2000) identified 21 different germline mutations in the CYLD gene in affected members of 21 families with cylindromatosis. Six somatic mutations were identified in 1 patient with sporadic disease and 5 patients with familial disease. ...