Brooke-Spiegler syndrome (BRSS) is an inherited disease characterized by multiple tumors of tissues derived from folliculo-sebaceous-apocrine unit, including cylindromas, trichoepitheliomas, and/or spiradenomas. It is an autosomal dominant condition.
Category
Neoplasm
Brite
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
Benign neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
Benign non-mesenchymal neoplasms
Benign cutaneous neoplasms
2F22 Benign neoplasms of epidermal appendages
H00827 Brooke-Spiegler syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06527 Necroptosis
H00827 Brooke-Spiegler syndrome
Familial cylindromatosis (FC) is a rare, autosomal dominant disorder characterized by the development of multiple benign tumors originating from the skin appendages. It is linked to CYLD gene, whose loss of function impairs epidermal differentiation.
Category
Neoplasm
Brite
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
Benign neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
Benign non-mesenchymal neoplasms
Benign cutaneous neoplasms
2F22 Benign neoplasms of epidermal appendages
H00828 Familial cylindromatosis
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06527 Necroptosis
H00828 Familial cylindromatosis
Multiple familial trichoepithelioma (MFT) is a benign epidermal tumor characterized by grouped nodules and papules on the face. The lesions are derived from immature hair follicles. It is inherited in autosomal dominant fashion and is related to Brooke-Spiegler syndrome and Familial cylindromatosis.
Category
Neoplasm
Brite
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
Benign neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
Benign non-mesenchymal neoplasms
Benign cutaneous neoplasms
2F22 Benign neoplasms of epidermal appendages
H00829 Multiple familial trichoepithelioma
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06527 Necroptosis
H00829 Multiple familial trichoepithelioma
Kazakov DV, Vanecek T, Zelger B, Carlson JA, Spagnolo DV, Schaller J, Nemcova J, Kacerovska D, Vazmitel M, Sangueza M, Emberger M, Belousova I, Fernandez-Figueraz MT, Kempf W, Meyer DR, Rutten A, Baltaci M, Michal M
Title
Multiple (familial) trichoepitheliomas: a clinicopathological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients.
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are genetically heterogeneous disorders. Mutations in the several genes and a repeat expansion in the C9orf72 gene have been reported to be associated with both diseases (FTDALS). Genes linked to both diseases may converge into a common pathogenetic pathway, explaining the overlap of clinical symptoms.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Motor neuron diseases or related disorders
8B60 Motor neuron disease
H02342 Frontotemporal dementia and amyotrophic lateral sclerosis
Pathway-based classification of diseases [BR:br08402]
Replication and repair
nt06509 DNA replication
H02342 Frontotemporal dementia and amyotrophic lateral sclerosis
Cellular process
nt06532 Autophagy
H02342 Frontotemporal dementia and amyotrophic lateral sclerosis
nt06536 Mitophagy
H02342 Frontotemporal dementia and amyotrophic lateral sclerosis
nt06527 Necroptosis
H02342 Frontotemporal dementia and amyotrophic lateral sclerosis
Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore DG, Verschueren A, Rouzier C, Le Ber I, Auge G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V
Title
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.
Rubino E, Rainero I, Chio A, Rogaeva E, Galimberti D, Fenoglio P, Grinberg Y, Isaia G, Calvo A, Gentile S, Bruni AC, St George-Hyslop PH, Scarpini E, Gallone S, Pinessi L
Title
SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.
Johnson JO, Mandrioli J, Benatar M, Abramzon Y, Van Deerlin VM, Trojanowski JQ, Gibbs JR, Brunetti M, Gronka S, Wuu J, Ding J, McCluskey L, Martinez-Lage M, Falcone D, Hernandez DG, Arepalli S, Chong S, Schymick JC, Rothstein J, Landi F, Wang YD, Calvo A, Mora G, Sabatelli M, Monsurro MR, Battistini S, Salvi F, Spataro R, Sola P, Borghero G, Galassi G, Scholz SW, Taylor JP, Restagno G, Chio A, Traynor BJ
Title
Exome sequencing reveals VCP mutations as a cause of familial ALS.
