WordNet

a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
relating to or evidencing dysplasia

PrepTutorEJDIC

(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
母斑(ぼはん)(先天性のあざ・ほくろ・そばかすなど)

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/05/13 08:32:43」(JST)

wiki en

Someone with FAMM.

Dysplastic nevus syndrome (also known as "Familial atypical multiple mole–melanoma (FAMMM) syndrome", "familial melanoma syndrome,"^[1] and "B-K mole syndrome") is a cutaneous condition described in certain families, and characterized by unusual nevi and multiple inherited melanomas.^[2]^:692^[3]

Historical background

In 1820 Norris reported the first case of what is now recognized as FAMMM (12). He described a 59-year-old man with melanoma, a high total body mole count, and family history of the same.^[4]

Pathology

The histopathologic characteristics of melanoma in FAMMM kindreds are not different from those seen in sporadic cases of melanoma and, thus, are not useful in diagnosing the syndrome. Superficial spreading melanoma (SSM) and nodular melanoma are the most frequently encountered histological melanoma subtypes in patients with CDKN2A mutations, which is consistent with the relative early age of onset.

CDKN2A

The CDKN2A gene is located on chromosome 9p21.3. Two main transcripts, isoforms ‘1’ and ‘4’, each contain three exons and span 7288 and 26740 bp, respectively. They encode proteins of 156 and 173 amino acids; isoform ‘1’ encodes p16(INK4a), while isoform ‘4’ encodes p14(ARF), a protein that is structurally unrelated to p16(INK4) but acts in cell cycle G1 control by stabilizing the tumor suppressor protein p53.^[5]

The penetrance for melanoma in kindreds with CDKN2A mutations is estimated at 58% to 92% by 80 years of age and varies with geography. The penetrance in CDKN2A mutation carriers for pancreatic cancer has been estimated to be 17% by 75 years of age. As noted above, there is wide variation in published estimates of the penetrance of CDKN2A mutations.

Management

Screening for melanoma in FAMMM kindreds should begin at age 10 with a baseline total body skin examination including scalp, oral mucosa, genital area, and nail, as family members may develop melanoma in their early teens.

At Mayo Clinic, FAMMM patients with a confirmed mutation and family history of pancreatic cancer are offered screening with either high-resolution pancreatic protocol CT, MRI, or endoscopic ultrasound starting at age 50 or 10 years younger than the earliest family member with pancreas cancer. They are counseled on the lack of evidence-based data to support screening, and on the limitations of our current technology to detect a lesion at a stage amenable to therapy.^[5]

References

^ http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/dermatology/cutaneous-malignant-melanoma/
^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
^ Czajkowski, R., FAMMM Syndrome: Pathogenesis and Management, Dermatologic Surgery, Vol. 30 Issue 2 p2, p291-296, 2004.
^ "FAMMM : In Familial Cancer Syndromes. DL Riegert-Johnson and others. NCBI 2009". http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=famcan&part=famcanapp2. Retrieved 2009-07-21.
^ ^a ^b "FAMMM : In Familial Cancer Syndromes. DL Riegert-Johnson and others. NCBI 2009". http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=famcan&part=ch2famcan. Retrieved 2009-07-21.

External links

Cancer.Net: Familial Malignant Melanoma
GenoMEL: Having a family history of melanoma

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 非定型母斑（異形成母斑） atypical dysplastic nevi
2. 黒色腫（メラノーマ）に対する遺伝的感受性 inherited susceptibility to melanoma
3. 黒色腫発症の危険因子 risk factors for the development of melanoma
4. 膵外分泌癌の疫学および危険因子 epidemiology and risk factors for exocrine pancreatic cancer
5. 膵外分泌癌の分子学的病因 molecular pathogenesis of exocrine pancreatic cancer

English Journal

Feasibility of serial biopsies of large dysplastic nevi as a melanoma chemoprevention model.

Lao CD, Johnson T, Sondak VK, Lowe L, Kim DS, Zhao L, Naftanel M, Olsen S, Brenner DE.
Journal of the American Academy of Dermatology.J Am Acad Dermatol.2011 Jun;64(6):1188-90.
PMID 21571186

Dysplastic nevus--a risk factor of developing skin melanoma clinical and epidemiological study with retrospective review of literature.

Marinkovi? M, Janji? Z, Nikoli? J.SourceDepartment for Plastic and Reconstructive Surgery, Clinical Centre Vojvodina, Novi Sad. mmarinkovic.marija@gmail.com
Medicinski pregled.Med Pregl.2011 May-Jun;64(5-6):315-8.
Dysplastic nevus is a risk factor for developing skin melanoma. The aim was to analyze patients with both skin melanoma and dysplastic nevi. A 10-year retrospective analysis (1999-2009) was conducted at the Department for Plastic and Reconstructive Surgery, Clinical Centre Vojvodina. During the obse
PMID 21789925

Japanese Journal

症例 Dysplastic Nevus Syndrome(Dysplastic Nevus Type D1)の1例

安居千賀子,清水聡子,後藤由香 [他]
皮膚科の臨床 51(3), 419-422, 2009-03
NAID 40016535902

Dysplastic Nevusのホルマリン固定パラフィン包埋未染標本の蛍光法的所見 : HMB45・NKI/C-3染色性との相関並びにpheomelanin生成に関する研究

仲谷貴子,森嶋隆文,森嶋智津子,栗原伸之,原弘之
日本皮膚科学会雑誌 108(8), 1031-1040, 1998-07-20
NAID 10007730057

Related Pictures

★リンクテーブル★

リンク元	「KAP STEP2CK2008 001」「異形成母斑症候群」「dysplastic nevi」
関連記事	「dysplastic」「syndrome」

「KAP STEP2CK2008 001」

Dysplastic nevus syndrome
	Classification and external resources
ICD-10	D48.5 (ILDS D48.520)
OMIM	155600
DiseasesDB	31106

　　[★]

Internal medicine 1-10

glossary

dysplastic nevus syndrome
bleomycin 肺線維症
cisplatin tinnititus, hearing loos, nephrotoxicity
mithramycin
cavaderis
エンテロバクター属。グラム陰性桿菌だよ
モラクセラ・カタラーリスってどんなやつ？

悪性黒色腫を疑う場合はABCD

asymmetry
border irregular
color variegation
diameter > 0.6cm

「異形成母斑症候群」

　　[★]

英: dysplastic nevus syndrome DNS
同: B-K母斑症候群 B-K mole syndrome
関: 異型母斑、異形成母斑

[show details]

異形成母斑症候群 : 27 件
異型母斑症候群 : 30 件

「dysplastic nevi」

　　[★]

異形成母斑、異型母斑

関: dysplastic nevus、dysplastic nevus syndrome

「dysplastic」

　　[★]

adj.

形成異常の、形成異常

関: aplastic 無形成、形成不全

「syndrome」

　　[★]

n.

症候群

[0] ttp://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/dermatology/cutaneous-malignant-melanoma/

[Andrews-1] James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.

[FAMMM-2] Czajkowski, R., FAMMM Syndrome: Pathogenesis and Management, Dermatologic Surgery, Vol. 30 Issue 2 p2, p291-296, 2004.

[3] "FAMMM : In Familial Cancer Syndromes. DL Riegert-Johnson and others. NCBI 2009". http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=famcan&part=famcanapp2. Retrieved 2009-07-21.

[ncbi.nlm.nih.gov-4] "FAMMM : In Familial Cancer Syndromes. DL Riegert-Johnson and others. NCBI 2009". http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=famcan&part=ch2famcan. Retrieved 2009-07-21.

匿名

検索

案内

案内

dysplastic nevus syndrome