poikiloderma congenitale

先天性多形皮膚萎縮症

WordNet

1. present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate

PrepTutorEJDIC

1. (病気・身体的欠陥など)生まれつきの,先天的な

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/11/29 03:25:03」(JST)

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Rothmund-Thomson syndrome
Classification and external resources
Panel showing some clinical features of the RTS syndrome. A) Chronic phase of cheek poikiloderma (4-year-old girl). B) Poikiloderma with alopecia (21-year-old boy). C) Poikiloderma. D) Poikiloderma sparing the trunk (courtesy of Professor M. Paradisi, Rome). E) Photo distributed poikiloderma and valgism of the knees. F) Thumb aplasia (patient B). G) Bone defect seen by X-Rays: cystic-like destructive lesion of the humerus (distal epiphysis) without apparent solution of continuity of the cortical bone (patient E).
ICD-10	Q82.8 (ILDS Q82.852)
ICD-9	757.33
OMIM	268400
DiseasesDB	29891
eMedicine	derm/379
MeSH	D011038

Rothmund–Thomson syndrome (RTS), also known as poikiloderma atrophicans with cataract or poikiloderma congenitale, is a rare autosomal recessive skin condition originally described by August von Rothmund (1830–1906) in 1868. Matthew Sydney Thomson (1894–1969) published further descriptions in 1936.

There have been several reported cases associated with osteosarcoma. A hereditary genetic basis, mutations in the DNA Helicase RECQL4 gene, causing problems during initiation of DNA replication has been implicated in the syndrome

Characteristics

• Sun-sensitive rash with prominent poikiloderma and telangiectasias
• Juvenile cataracts
• Saddle nose
• Congenital bone defects, including short stature and radial ray anomalies such as absent thumbs
• Hair growth problems (absent eyelashes, eyebrows and/or hair)
• Hypogonadism has not been well documented
• Hypodontia
• Calcium problems (not documented in journals)
• Ear problems (not documented in journals but identified by patients in support groups)
• Produces Osteosarcoma

The skin is normal at birth. Between 3 to 6 months of age, the affected carrier develops poikiloderma on the cheeks. This characteristic “rash” that all RTS carriers have can develop on the arms, legs and buttocks. “Poikiloderma consists of areas of increased and decreased pigmentation, prominent blood vessels, and thinning of the skin”

Cause and Genetics

Rothmund–Thomson syndrome has an autosomal recessive pattern of inheritance.

RTS is caused by a mutation of the RECQL4 gene, located at chromosome 8q24.3. The disorder is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome (chromosome 8 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

See also

• Poikiloderma vasculare atrophicans
• List of cutaneous conditions
• List of radiographic findings associated with cutaneous conditions

References

External links

• Rothmund-Thomson on PFOND - web-based service to promote the sharing of information about research, treatment and resources for rare genetic disorders.
• GeneReviews/NCBI/NIH/UW entry on Rothmund-Thomson Syndrome
• Poikiloderma of Rothmund-Thomson at NIH's Office of Rare Diseases
• RTSPlace.org

UpToDate Contents

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• 1. 光線過敏症（光線皮膚症）：臨床症状、診断、および治療 photosensitivity disorders photodermatoses clinical manifestations diagnosis and treatment
• 2. 骨肉腫：疫学、病因、臨床症状、診断、および組織学的検査 osteosarcoma epidemiology pathogenesis clinical presentation diagnosis and histology
• 3. 軟部および骨肉腫の病原因子 pathogenetic factors in soft tissue and bone sarcomas
• 4. 皮膚扁平上皮癌の疫学および危険因子 epidemiology and risk factors for cutaneous squamous cell carcinoma
• 5. 放射線関連肉腫 radiation associated sarcomas

English Journal

• Rothmund-Thomson Syndrome and Glomerulonephritis in a Homozygous C1q-Deficient Patient Due to a Gly164Ser C1qC Mutation.

• López-Lera A1, M Torres-Canizales J2, Garrido S1, Morales A3, López-Trascasa M1.
• The Journal of investigative dermatology.J Invest Dermatol.2014 Apr;134(4):1152-4. doi: 10.1038/jid.2013.444. Epub 2013 Oct 24.
• PMID 24157463

• Bloom syndrome.

• Arora H1, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J.Author information 1Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, FL, USA.AbstractBloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. The most concerning manifestation of BS is multiple malignancies, which require frequent screenings and strict vigilance by the physician. Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as Rothmund-Thomson Syndrome, Erythropoietic Protoporphyria, and Cockayne Syndrome is paramount to disease management and to prolonging life. BS can be diagnosed through a variety of DNA sequencing methods, and genetic testing is available for high-risk populations. This review consolidates several sources on BS sequelae and aims to suggest the importance of differentiating BS from other dermatologic conditions. This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia.
• International journal of dermatology.Int J Dermatol.2014 Mar 6. doi: 10.1111/ijd.12408. [Epub ahead of print]
• Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instabilit
• PMID 24602044

• Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.

• Piard J1, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, González-Enseñat MA, Rio M, Bodemer C, Philip N, Cordier MP, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, Didonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Geneviève D, Thevenon J, Courcet JB, Rivière JB, Collet C, Gigot N, Faivre L, Thauvin-Robinet C.Author information 1EA 4271 GAD "Génétique des Anomalies du Développement", IFR Santé STIC, Université de Bourgogne, Dijon, France; Centre de Génétique Humaine, CHU Besançon, Besançon, France.AbstractThree overlapping conditions, namely Rothmund-Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low, leading to the widespread prescription of RECQL4 sequencing. The aim of our study was therefore to determine the best clinical indicators for the presence of RECQL4 mutations in a series of 39 patients referred for RECQL4 molecular analysis and belonging to the RTS (27 cases) and BGS (12 cases) spectrum. One or two deleterious RECQL4 mutations were found in 10/27 patients referred for RTS diagnosis. Clinical and molecular reevaluation led to a different diagnosis in 7/17 negative cases, including Clericuzio-type poikiloderma with neutropenia, hereditary sclerosing poikiloderma, and craniosynostosis/anal anomalies/porokeratosis. No RECQL4 mutations were found in the BGS group without poikiloderma, confirming that RECQL4 sequencing was not indicated in this phenotype. One chromosomal abnormality and one TWIST mutation was found in this cohort. This study highlights the search for differential diagnoses before the prescription of RECQL4 sequencing in this clinically heterogeneous group. The combination of clinically defined subgroups and next-generation sequencing will hopefully bring to light new molecular bases of syndromes with poikiloderma, as well as BGS without poikiloderma.
• Clinical genetics.Clin Genet.2014 Feb 14. doi: 10.1111/cge.12361. [Epub ahead of print]
• Three overlapping conditions, namely Rothmund-Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low, leading to the widespread prescription of RECQL4
• PMID 24635570

Japanese Journal

• Poikiloderma congenitale ; case report and review of the literature

• COLLINS P
• Pediatr Dermatol 8, 58-60, 1991
• NAID 30035803036

• Rothmund-Thomson症候群(Poikiloderma congenitale)の組織学的所見--特にPAS陽性物質について

• 熊切 正信,三浦 祐晶,荒島 真一郎
• 臨床皮膚科 33(11), p1011-1014, 1979-11
• NAID 40003793069

Related Links

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• Poikiloderma Congenitale - ResearchGate - ResearchGate ...

[Show abstract] [Hide abstract] ABSTRACT: Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature, sparse scalp hair, sparse or absent ...

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★リンクテーブル★

リンク元	「ロトムンド・トムソン症候群」「先天性多形皮膚萎縮症」
関連記事	「congenita」「congenital」「poikiloderma」

「ロトムンド・トムソン症候群」

　　[★]

英

Rothmund-Thomson syndrome

同

先天性多形皮膚萎縮症 poikiloderma congenitale

「先天性多形皮膚萎縮症」

　　[★]

ラ

poikiloderma congenitale

関

ロトムンド・トムソン症候群

「congenita」

　　[★]

• adj.

• (後置するラテン語形容詞)先天性の

関

congenital、congenitally

• ex.

• dyskeratosis congenita、myotonia congenita

「congenital」

　　[★]

• adj.

• 生まれつきの、先天的な

　 　

「poikiloderma」

　　[★]

poikil + derma

多形皮膚萎縮症