Preferred Label : Cylindromatosis, familial;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Ancell-spiegler cylindromas; Cylindromas, dermal eccrine; 'turban tumor' syndrome;
Description : 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.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the CYLD gene (605018.0001);
Neoplasia : Cylindromas may show malignant transformation;
Prefixed ID : #132700;
Origin ID : 132700;
UMLS CUI : C1851526;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
Genes related to phenotype
HPO term(s)
Narrower ORDO disease(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)