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Results: 7

1.

Cylindromatosis, familial

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. [from OMIM]

MedGen UID:
343593
Concept ID:
C1851526
Disease or Syndrome
2.

Eccrine dermal cylindroma

A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative. [from NCI]

MedGen UID:
220995
Concept ID:
C1305968
Neoplastic Process
3.

Independent

MedGen UID:
721426
Concept ID:
C1299583
Finding
4.

Detected

MedGen UID:
617726
Concept ID:
C0442726
Finding
5.

Cataract 32

MedGen UID:
340806
Concept ID:
C1855179
Disease or Syndrome
6.

Proliferation

Growth and reproduction of new similar forms, e.g. cells, buds, or offspring. [from NCI]

MedGen UID:
137720
Concept ID:
C0334094
Pathologic Function
7.

Phosphorylation

A process in which a phosphate group is added to a molecule, such as a sugar or a protein. [from NCI]

MedGen UID:
10742
Concept ID:
C0031715
Molecular Function

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