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Familial cylindromatosis

MedGen UID:
343593
Concept ID:
C1851526
Pathologic Function
Synonyms: Ancell-Spiegler cylindromas; Turban tumor syndrome; Turban tumors
SNOMED CT: Turban tumor (211710004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): CYLD (16q12.1)
 
Monarch Initiative: MONDO:0007565
OMIM®: 132700
Orphanet: ORPHA211

Disease characteristics

Excerpted from the GeneReview: CYLD Cutaneous Syndrome
CYLD cutaneous syndrome (CCS) typically manifests in the second or third decade with the appearance of multiple skin tumors including cylindromas, spiradenomas, trichoepitheliomas, and rarely, membranous basal cell adenoma of the salivary gland. The first tumor typically develops at puberty and tumors progressively accumulate through adulthood. Females often have more tumors than males. Tumors typically arise on the scalp and face but can also arise on the torso and sun-protected sites, such as the genital and axillary skin. A minority of individuals develop salivary gland tumors. Rarely, pulmonary cylindromas can develop in large airways and compromise breathing. Although the tumors are usually benign, malignant transformation is recognized. [from GeneReviews]
Authors:
Anna Dubois  |  Neil Rajan   view full author information

Additional description

From 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 have only cylindromas, and those with MFT1 have only trichoepitheliomas. However, because these disorders show overlapping phenotypic features, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity (Guggenheim and Schnyder, 1961; Welch et al., 1968; Gerretsen et al., 1995; Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008). Van Balkom and Hennekam (1994), who preferred the designation 'dermal eccrine cylindromatosis' for familial cylindromatosis, provided a review. 'Eccrine' referred to histologic evidence that the tumors may originate from the eccrine sweat glands. Blake and Toro (2009) provided a detailed review of the spectrum of disorders associated with CYLD mutations.  http://www.omim.org/entry/132700

Clinical features

From HPO
Neoplasm of the skin
MedGen UID:
19993
Concept ID:
C0037286
Neoplastic Process
A tumor (abnormal growth of tissue) of the skin.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial cylindromatosis

Professional guidelines

PubMed

Nagy N, Farkas K, Kemény L, Széll M
Eur J Med Genet 2015 May;58(5):271-8. Epub 2015 Mar 14 doi: 10.1016/j.ejmg.2015.02.010. PMID: 25782638
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J Invest Dermatol 2005 May;124(5):919-20. doi: 10.1111/j.0022-202X.2005.23688.x. PMID: 15854031

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Prognosis

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Clinical prediction guides

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Biggs PJ, Wooster R, Ford D, Chapman P, Mangion J, Quirk Y, Easton DF, Burn J, Stratton MR
Nat Genet 1995 Dec;11(4):441-3. doi: 10.1038/ng1295-441. PMID: 7493027

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