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a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"

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(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

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/10/27 04:07:58」(JST)

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Hoyeraal-Hreidarsson syndrome (HHS) is a very rare multisystem X-linked recessive disorder characterized by excessively short telomeres and is considered a severe form of dyskeratosis congenita.^[1]^[2] Being an X-linked disorder, HHS primarily affects males. Patients with HHS typically present in early childhood with cerebellar hypoplasia, immunodeficiency, progressive bone marrow failure, and intrauterine growth retardation.^[1] The primary cause of death in HHS is bone marrow failure, but mortality from cancer and pulmonary fibrosis is also significant.^[3]

Characteristics

The currently recognized features of HHS are cerebellar hypoplasia, immunodeficiency, progressive bone marrow failure, and intrauterine growth retardation. HHS patients also commonly exhibit symptoms such as microcephaly, aplastic anemia, and mental retardation.^[2]

Overlap with dyskeratosis congenita

In addition to HHS-specific sequelae, HHS patients frequently present with the mucocutaneous triad of nail dysplasia, lacy skin pigmentation, and oral leukoplakia

Pathogenesis

Although the pathogenesis of HHS remains unknown, it is strongly suspected that the clinical sequelae of HHS arise from the accelerated telomere shortening present in HHS patients.^[1]

References

^ ^a ^b ^c Glousker G, Touzot F, Revy P, Tzfati Y, Savage SA (2015). "Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder". Br. J. Haematol. doi:10.1111/bjh.13442. PMID 25940403.
^ ^a ^b Knight SW, Heiss NS, Vulliamy TJ, Aalfs CM, McMahon C, Richmond P, Jones A, Hennekam RC, Poustka A, Mason PJ, Dokal I (1999). "Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1". Br. J. Haematol. 107 (2): 335–9. PMID 10583221.
^ Deng Z, Glousker G, Molczan A, Fox AJ, Lamm N, Dheekollu J, Weizman OE, Schertzer M, Wang Z, Vladimirova O, Schug J, Aker M, Londoño-Vallejo A, Kaestner KH, Lieberman PM, Tzfati Y (2013). "Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome". Proc. Natl. Acad. Sci. U.S.A. 110 (36): E3408–16. doi:10.1073/pnas.1300600110. PMC 3767560. PMID 23959892.

External links

Hoyeraal-Hreidarsson syndrome on Orphanet

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1. 小児および思春期における遺伝性再生不良性貧血 inherited aplastic anemia in children and adolescents

English Journal

Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan.

Yamaguchi H1, Sakaguchi H2, Yoshida K3, Yabe M4, Yabe H4, Okuno Y2, Muramatsu H2, Takahashi Y2, Yui S5, Shiraishi Y6, Chiba K6, Tanaka H7, Miyano S6,7, Inokuchi K5, Ito E8, Ogawa S3, Kojima S2.
International journal of hematology.Int J Hematol.2015 Nov;102(5):544-52. doi: 10.1007/s12185-015-1861-6. Epub 2015 Sep 2.
Dyskeratosis congenita (DKC) is an inherited bone marrow failure (BMF) syndrome typified by reticulated skin pigmentation, nail dystrophy, and mucosal leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is considered to be a severe form of DKC. Unconventional forms of DKC, which develop slowly in adult
PMID 26329388

Hoyeraal-Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype.

Bakar Ö1, Işik U2, Canpolat C3, Alanay Y4.
Pediatric dermatology.Pediatr Dermatol.2015 Nov;32(6):e263-6. doi: 10.1111/pde.12693. Epub 2015 Oct 8.
Hoyeraal-Hreidarsson syndrome is a rare telomere biology disorder that is recognized as a severe variant of dyskeratosis congenita. We present a Libyan boy with hematologic and neurologic abnormalities with typical dermatologic manifestations of dyskeratosis congenita. Death usually occurs before th
PMID 26446280

Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.

Glousker G1, Touzot F2, Revy P2, Tzfati Y1, Savage SA3.
British journal of haematology.Br J Haematol.2015 Aug;170(4):457-71. doi: 10.1111/bjh.13442. Epub 2015 May 4.
Hoyeraal-Hreidarsson (HH) syndrome is a multisystem genetic disorder characterized by very short telomeres and considered a clinically severe variant of dyskeratosis congenita. The main cause of mortality, usually in early childhood, is bone marrow failure. Mutations in several telomere biology gene
PMID 25940403

Japanese Journal

骨髄不全症候群におけるテロメア制御異常

日本医科大学医学会雑誌 11(3), 136-144, 2015
NAID 130005087586

Congenital infection-like syndrome with intracranial calcification

Brain & development 33(6), 530-533, 2011-06-06
NAID 10029562212

Hoyeraal-Hreidarsson syndrome : magnetic resonance imaging findings

Jpn J Radiol 27, 324-327, 2009
NAID 50007371934

「ホイエラール・レイダーソン症候群」

Hoyeraal-Hreidarsson syndrome
Classification and external resources
Specialty	medical genetics
ICD-10	Q82.8
ICD-9-CM	757.39
OMIM	305000
DiseasesDB	32955
MeSH	C536068

　　[★]

英: Hoyeraal-Hreidarsson syndrome
同: Hoyeraal-Hreidarsson症候群

「syndrome」

　　[★]

n.

症候群

[Glousker15-1] Glousker G, Touzot F, Revy P, Tzfati Y, Savage SA (2015). "Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder". Br. J. Haematol. doi:10.1111/bjh.13442. PMID 25940403.

[Knight01-2] Knight SW, Heiss NS, Vulliamy TJ, Aalfs CM, McMahon C, Richmond P, Jones A, Hennekam RC, Poustka A, Mason PJ, Dokal I (1999). "Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1". Br. J. Haematol. 107 (2): 335–9. PMID 10583221.

[Deng13-3] Deng Z, Glousker G, Molczan A, Fox AJ, Lamm N, Dheekollu J, Weizman OE, Schertzer M, Wang Z, Vladimirova O, Schug J, Aker M, Londoño-Vallejo A, Kaestner KH, Lieberman PM, Tzfati Y (2013). "Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome". Proc. Natl. Acad. Sci. U.S.A. 110 (36): E3408–16. doi:10.1073/pnas.1300600110. PMC 3767560. PMID 23959892.

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Hoyeraal-Hreidarsson syndrome