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Results: 1 to 20 of 33

1.

Spiegler-Brooke syndrome

Brooke-Spiegler syndrome is an autosomal dominant disorder classically characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life (Scheinfeld et al., 2003). Because BRSS, familial cylindromatosis, and MFT1 are allelic, 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 (Gerretsen et al., 1995; Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008). Blake and Toro (2009) provided a review of Brooke-Spiegler syndrome and pathogenic mutations in the CYLD gene. [from OMIM]

MedGen UID:
346703
Concept ID:
C1857941
Disease or Syndrome
2.

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
3.

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
4.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
5.

Phenotypic variability

MedGen UID:
381249
Concept ID:
C1853719
Finding
6.

Error occurred: cannot get document summary

ID:
272128

7.

Pathogenesis

specific processes that generate the ability of an organism to cause disease [from CHV]

MedGen UID:
195936
Concept ID:
C0699748
Pathologic Function
8.

Severity

The degree of something undesirable e.g. pain or weather; also, strictness. [from NCI]

MedGen UID:
141003
Concept ID:
C0439793
9.

Examined for

Having been subjected to inspection or evaluation. [from NCI]

MedGen UID:
83047
Concept ID:
C0332128
Finding
10.

Tumorigenesis

A pathologic process that involves the transformation of normal cells to a neoplastic state and resulting in polyclonal or monoclonal neoplastic cell proliferation. [from NCI]

MedGen UID:
3302
Concept ID:
C0007621
Neoplastic Process
11.

Bernard Soulier syndrome

Bernard-Soulier syndrome is an autosomal recessive bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor (VWF; 613160) receptor complex, glycoprotein Ib (GP Ib). GP Ib is composed of 4 subunits encoded by 4 separate genes: GP1BA, GP1BB, GP9, and GP5 (173511). Genetic Heterogeneity of Platelet-Type Bleeding Disorders Inherited platelet disorders are a heterogeneous group of bleeding disorders affecting platelet number, function, or both. Functional defects can involve platelet receptors, signaling pathways, cytoskeletal proteins, granule contents, activation, or aggregation (review by Cox et al., 2011 and Nurden and Nurden, 2011). Platelet-type bleeding disorders include Bernard-Soulier syndrome (BDPLT1); Glanzmann thrombasthenia (BDPLT2; 273800), caused by mutation in the ITGA2B (607759) or ITGB3 (173470) gene; pseudo-von Willebrand disease (BDPLT3; 177820), caused by mutation in the GP1BA gene (606672); gray platelet syndrome (BDPLT4; 139090), caused by mutation in the NBEAL2 gene (614169); Quebec platelet disorder (BDPLT5; 601709), caused by tandem duplication of the PLAU gene (191840); May-Hegglin anomaly (BDPLT6; 155100), caused by mutation in the MYH9 gene (160775); Scott syndrome (BDPLT7; 262890), caused by mutation in the TMEM16F gene (608663); BDPLT8 (609821), caused by mutation in the P2RY12 gene (600515); BDPLT9 (614200), associated with deficiency of the glycoprotein Ia/IIa receptor (see ITGA2; 192974); glycoprotein IV deficiency (BDPLT10; 608404), caused by mutation in the CD36 gene (173510); BDPLT11 (614201), caused by mutation in the GP6 gene (605546); BDPLT12 (605735), associated with a deficiency of platelet COX1 (176805); susceptibility to BDPLT13 (614009), caused by mutation in the TBXA2R gene (188070); BDPLT14 (614158), associated with deficiency of thromboxane synthetase (TBXAS1; 274180); BDPLT15 (615193), caused by mutation in the ACTN1 gene (102575); BDPLT16 (187800), caused by mutation in the ITGA2B (607759) or ITGB3 (173470) gene; BDPLT17 (187900), caused by mutation in the GFI1B gene (604383); BDPLT18 (615888), caused by mutation in the RASGRP2 gene (605577); and BDPLT19 (616176), caused by mutation in the PRKACG gene (176893). See reviews by Rao (2003), Cox et al. (2011), and Nurden and Nurden (2011). For a discussion of the genetic heterogeneity of hereditary thrombocytopenia, see THC1 (313900). [from OMIM]

MedGen UID:
2212
Concept ID:
C0005129
Disease or Syndrome
12.

Epithelial Neoplasm

neoplasm of epithelial origin, ranging from benign (adenoma and papilloma) to malignant (carcinoma). [from CRISP]

MedGen UID:
277963
Concept ID:
C1368683
Neoplastic Process
13.

Neoplasms, Adnexal and Skin Appendage

Neoplasms composed of sebaceous or sweat gland tissue or tissue of other skin appendages. The concept does not refer to neoplasms located in the sebaceous or sweat glands or in the other skin appendages. [from MeSH]

MedGen UID:
104936
Concept ID:
C0206766
Neoplastic Process
14.

Carcinomatosis

A condition in which cancer is spread widely throughout the body. [from NCI]

MedGen UID:
104704
Concept ID:
C0205699
Neoplastic Process
15.

Cribriform Carcinoma

A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma. [from NCI]

MedGen UID:
104694
Concept ID:
C0205643
Neoplastic Process
16.

Tubular Adenocarcinoma

A malignant glandular neoplasm exhibiting tubular structures. [from NCI]

MedGen UID:
61428
Concept ID:
C0205645
Neoplastic Process
17.

Oxyphilic Adenocarcinoma

A malignant neoplasm composed of large epithelial cells with abundant granular eosinophilic cytoplasm (oncocytes). [from NCI]

MedGen UID:
61427
Concept ID:
C0205642
Neoplastic Process
18.

Adnexal Carcinoma

A malignant tumor of the skin appendages, which include the hair, nails, sebaceous glands, sweat glands, and the mammary glands. (From Dorland, 27th ed) [from MeSH]

MedGen UID:
60209
Concept ID:
C0206697
Neoplastic Process
19.

Undifferentiated Carcinoma

A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation. [from NCI]

MedGen UID:
60010
Concept ID:
C0205698
Neoplastic Process
20.

Sarcomatoid Carcinoma

A malignant epithelial neoplasm characterized by the presence of spindle cells. [from NCI]

MedGen UID:
60009
Concept ID:
C0205697
Neoplastic Process

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