WordNet
- 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)』「2016/07/30 05:39:17」(JST)
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Classification and external resources |
Specialty |
medical genetics |
ICD-10 |
Q82.8 |
ICD-9-CM |
759.89 |
OMIM |
305600 |
DiseasesDB |
29896 |
eMedicine |
derm/155 |
MeSH |
D005489 |
GeneReviews |
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[edit on Wikidata]
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Focal dermal hypoplasia (also known as "Goltz syndrome") is a form of ectodermal dysplasia.[1] It is a multisystem disorder characterized primarily by skin manifestations to the atrophic and hypoplastic areas of skin which are present at birth. These defects manifest as yellow-pink bumps on the skin and pigmentation changes.[2] The disorder is also associated with shortness of stature and some evidence suggests that it can cause epilepsy.[3]
Contents
- 1 Genetics
- 2 Origin of eponyms
- 2.1 Jessner-Cole syndrome
- 2.2 Goltz-Gorlin
- 3 See also
- 4 References
- 5 External links
Genetics
The molecular Location of the PORCN gene on the X chromosome: base pairs 48,367,346 to 48,379,201
Focal dermal hypoplasia has been associated with PORCN gene mutations on the X chromosome.[4] 90% of the individuals who are affected with the syndrome are female: the commonly accepted, though unconfirmed, explanation for this is that the non-mosaic hemizygous males are not viable.[5]
The differential diagnosis of focal dermal hypoplasia (Goltz) syndrome includes autosomal recessive Setleis syndrome due to TWIST2 gene mutations. It associated with morning glory anomaly, polymicrogyria, incontinentia pigmenti, oculocerebrocutaneous syndrome, Rothmund-Thomson syndrome and microphthalmia with linear skin defects (also known as MLS) syndrome because they are all caused by deletions or point mutations in the HCCS gene.[6]
Origin of eponyms
Jessner-Cole syndrome
The disorder was first formally recognized by dermatologists, Max Jessner and Harold Newton Cole, in the early 20th century. Jessner and Cole's papers were referenced more than any others in the first half of the 20th century.[7][8]
Goltz-Gorlin
Besides its formal name, it is most commonly referred to as Goltz-Gorlin syndrome, after Robert Goltz and Robert Gorlin.[9] Goltz and Gorlin worked together at Columbia University [10] and are credited for describing the symptoms of the disorder in more detail than ever before and tracking its genetic trends. The name became popular during the second half of the 20th century.
See also
- List of cutaneous conditions
- List of radiographic findings associated with cutaneous conditions
References
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ Goltz RW, Henderson RR, Hitch JM, Ott JE (2008). Focal dermal hypoplasia syndrome. A review of the literature and report of two cases. GeneReviews.
- ^ Kanemura H, Hatakeyama K, Sugita K, Aihara M (2011). Epilepsy in a patient with focal dermal hypoplasia. Pediatric neurology.
- ^ Wang X, Reid Sutton V, Omar Peraza-Llanes J, et al. (July 2007). "Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia". Nat. Genet. 39 (7): 836–8. doi:10.1038/ng2057. PMID 17546030.
- ^ Sutton, Reid. Veyver; Ignatia B Van den Veyver (1970). Focal Dermal Hypoplasia. Arch Dermatol.
- ^ Wimplinger I, Shaw GM, Kutsche K, et al. (Aug 2007). "HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?". Mol Vis 13: 1475–82. PMID 17893649.
- ^ Jessner: Naeviforme poikilodermieartige Hautveränderungen mit Missbildungen. Zentralblatt für Haut- und Geschlechtskrankheiten, 1928, 27: 468.
- ^ H. N. Cole, et al: Ectodermal and mesodermal dysplasia with osseous involvement. Archiv für Dermatologie und Syphilis, Berlin, 1941, 44: 773-788.
- ^ synd/1370 at Who Named It?
- ^ R. W. Goltz, W. C. Peterson, R. J. Gorlin, H. G. Ravits: Focal dermal hypoplasia. Archives of Dermatology, Chicago, 1962, 86: 708-717.
External links
- http://www.orpha.net/consor/www/cgi-bin/OC_Exp.php?lng=EN&Expert=2092
- GeneReview/NIH/UW entry on Focal dermal hypoplasia
Sex linkage: X-linked disorders
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X-linked recessive
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Immune |
- Chronic granulomatous disease (CYBB)
- Wiskott–Aldrich syndrome
- X-linked severe combined immunodeficiency
- X-linked agammaglobulinemia
- Hyper-IgM syndrome type 1
- IPEX
- X-linked lymphoproliferative disease
- Properdin deficiency
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Hematologic |
- Haemophilia A
- Haemophilia B
- X-linked sideroblastic anemia
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Endocrine |
- Androgen insensitivity syndrome/Spinal and bulbar muscular atrophy
- KAL1 Kallmann syndrome
- X-linked adrenal hypoplasia congenita
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Metabolic |
- Amino acid: Ornithine transcarbamylase deficiency
- Oculocerebrorenal syndrome
- Dyslipidemia: Adrenoleukodystrophy
- Carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency
- Pyruvate dehydrogenase deficiency
- Danon disease/glycogen storage disease Type IIb
- Lipid storage disorder: Fabry's disease
- Mucopolysaccharidosis: Hunter syndrome
- Purine-pyrimidine metabolism: Lesch–Nyhan syndrome
- Mineral: Menkes disease/Occipital horn syndrome
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Nervous system |
- X-linked mental retardation: Coffin–Lowry syndrome
- MASA syndrome
- X-linked alpha thalassemia mental retardation syndrome
- Siderius X-linked mental retardation syndrome
- Eye disorders: Color blindness (red and green, but not blue)
- Ocular albinism (1)
- Norrie disease
- Choroideremia
- Other: Charcot–Marie–Tooth disease (CMTX2-3)
- Pelizaeus–Merzbacher disease
- SMAX2
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Skin and related tissue |
- Dyskeratosis congenita
- Hypohidrotic ectodermal dysplasia (EDA)
- X-linked ichthyosis
- X-linked endothelial corneal dystrophy
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Neuromuscular |
- Becker's muscular dystrophy/Duchenne
- Centronuclear myopathy (MTM1)
- Conradi–Hünermann syndrome
- Emery–Dreifuss muscular dystrophy 1
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Urologic |
- Alport syndrome
- Dent's disease
- X-linked nephrogenic diabetes insipidus
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Bone/tooth |
- AMELX Amelogenesis imperfecta
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No primary system |
- Barth syndrome
- McLeod syndrome
- Smith–Fineman–Myers syndrome
- Simpson–Golabi–Behmel syndrome
- Mohr–Tranebjærg syndrome
- Nasodigitoacoustic syndrome
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X-linked dominant
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- X-linked hypophosphatemia
- Focal dermal hypoplasia
- Fragile X syndrome
- Aicardi syndrome
- Incontinentia pigmenti
- Rett syndrome
- CHILD syndrome
- Lujan–Fryns syndrome
- Orofaciodigital syndrome 1
- Craniofrontonasal dysplasia
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UpToDate Contents
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- 1. 遺伝性皮膚症 the genodermatoses
- 2. 食道の良性病変 benign lesions of the esophagus
- 3. 臍帯ヘルニア omphalocele
- 4. 視神経の先天性および後天性異常 congenital anomalies and acquired abnormalities of the optic nerve
- 5. 母斑性基底細胞癌症候群 nevoid basal cell carcinoma syndrome
English Journal
- Multiple Basal Cell Carcinomas in a 38-Year-Old Woman with Goltz Syndrome.
- Patrizi A, Tabanelli M, Grzeschik KH, Misciali C, Neri I, Happle R.SourceDepartment of Internal Medicine, Oldness and Nephrologic Diseases, Dermatology, University of Bologna, Bologna, Italy.
- Dermatology (Basel, Switzerland).Dermatology.2012 Mar 9. [Epub ahead of print]
- Background: Focal dermal hypoplasia (FDH) or Goltz syndrome is a rare genetic multisystem disorder characterized by hypoplasia of ectodermally and mesodermally derived tissues. No cases of development of basal cell carcinomas in patients affected by FDH have previously been reported. Methods: We fol
- PMID 22414489
- Radiological features of familial Gorlin-Goltz syndrome.
- Hegde S, Shetty SR.SourceDepartment of Oral Medicine and Radiology, AB Shetty Memorial Institute of Dental Sciences, Nitte University, Mangalore, India.
- Imaging science in dentistry.Imaging Sci Dent.2012 Mar;42(1):55-60. Epub 2012 Mar 22.
- Gorlin-Goltz syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocystic odontogenic tumors, and skeletal anomalies. This syndrome may be diagnosed early by dentist because keratocystic odontogenic tumors are usually one of the first
- PMID 22474649
Japanese Journal
- 大森 睦美,高原 正和,中村 暁子,竹内 聡,師井 洋一,古江 増隆,占部 和敬,上田 明弘,安元 慎一郎
- 西日本皮膚科 = The Nishinihon journal of dermatology 73(2), 148-151, 2011-04-01
- NAID 10031147186
Related Links
- Goltz RW. Focal dermal hypoplasia syndrome. An update. Arch Dermatol. 1992 Aug. 128(8):1108-11. [Medline]. Goltz RW. Focal dermal hypoplasia. Pediatr Dermatol. 1990 Dec. 7(4):313-4. [Medline]. Goltz RW ...
- Focal dermal hypoplasia (Goltz syndrome). Authoritative facts about the skin from DermNet New Zealand. ... Related information References: Grzeschik, K-H, Bornholdt, D, Oeffner, F et al. Deficiency of PORCN, a regulator of Wnt ...
★リンクテーブル★
[★]
部分皮膚低形成、巣状皮膚低形成
- 関
- Goltz syndrome、Goltz's syndrome
[★]
ゴルツ症候群、Goltz症候群
- 関
- focal dermal hypoplasia、Goltz syndrome
[★]
- 英
- Goltz syndrome、Goltz's syndrome
- 関
- Goltz症候群、部分皮膚低形成
[★]