部分皮膚低形成、巣状皮膚低形成
- 関
- Goltz syndrome、Goltz's syndrome
WordNet
- of or relating to a focus; "focal length"
- having or localized centrally at a focus; "focal point"; "focal infection"
- of or relating to or located in the dermis (同)dermic
- underdevelopment of an organ because of a decrease in the number of cells
PrepTutorEJDIC
- 焦点の
- 皮膚の,皮膚に関する
- 真皮(true skin),皮膚
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/09/10 22:26:49」(JST)
[Wiki en表示]
| 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 |
|
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. (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
|
|
|
X-linked recessive
|
|
| 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
|
|
| Hematologic |
- Haemophilia A
- Haemophilia B
- X-linked sideroblastic anemia
|
|
| Endocrine |
- Androgen insensitivity syndrome/Spinal and bulbar muscular atrophy
- KAL1 Kallmann syndrome
- X-linked adrenal hypoplasia congenita
|
|
| 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
|
|
| 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
|
|
| Skin and related tissue |
- Dyskeratosis congenita
- Hypohidrotic ectodermal dysplasia (EDA)
- X-linked ichthyosis
- X-linked endothelial corneal dystrophy
|
|
| 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. 先天異常：原因 birth defects causes
- 3. 染色体モザイク（伊藤白斑） pigmentary mosaicism hypomelanosis of ito
- 4. 食道の良性病変 benign lesions of the esophagus
- 5. 視神経の先天性および後天性異常 congenital anomalies and acquired abnormalities of the optic nerve
English Journal
- Identification of key residues and regions important for Porcupine-mediated Wnt acylation.
- Rios-Esteves J1, Haugen B, Resh MD.
- The Journal of biological chemistry.J Biol Chem.2014 May 5. [Epub ahead of print]
- Wnts comprise a family of lipid-modified, secreted signaling proteins that control embryogenesis as well as tissue homeostasis in adults. Post-translational attachment of palmitoleate (C16:1) to a conserved Ser in Wnt proteins is catalyzed by Porcupine (Porcn), a member of the membrane bound O-acylt
- PMID 24798332
- A newborn with widespread skin lesions and extremity anomalies.
- Isik DU1, Ozcan B, Celik U, Aydemir O, Erdogan KM, Hekimoglu E, Bas AY, Demirel N.
- European journal of pediatrics.Eur J Pediatr.2014 Apr;173(4):545-6. doi: 10.1007/s00431-013-2195-0. Epub 2013 Nov 9.
- A variety of diseases can cause vesicular or pustular eruptions in newborns. A thorough clinical history and physical exam provide important clues for differential diagnosis. Goltz syndrome, also known as focal dermal hypoplasia, is a rare genodermatosis and generally diagnosed by the presence of th
- PMID 24213482
- Ophthalmologic findings in an 18-month-old boy with focal dermal hypoplasia.
- Young MP1, Sawyer BL2, Hartnett ME2.
- Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus.J AAPOS.2014 Apr;18(2):205-7. doi: 10.1016/j.jaapos.2013.11.015.
- Focal dermal hypoplasia is a rare X-linked dominant disorder with in utero lethality in males. Affected patients have been reported to have several different mutations in the PORCN gene on chromosome Xp11.23. Dysplastic mesodermal and ectodermal tissue causes clinical findings in the skin, skeleton,
- PMID 24698628
Japanese Journal
- 先天性表皮欠損症,Goltz症候群 (特集 見てわかる小児の皮膚疾患) -- (母斑・血管腫・遺伝性皮膚疾患)
- 西日本皮膚科 = The Nishinihon journal of dermatology 73(2), 148-151, 2011-04-01
- NAID 10031147186
- Severe focal dermal hypoplasia in a female patient transmitted from a mildly affected mother
Related Links
- Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected individuals are female. Males usually have milder signs and symptoms than females.
- Focal dermal hypoplasia (FDH) is an uncommon genetic disorder characterized by distinctive skin abnormalities and a wide variety of defects that affect the eyes; teeth; and skeletal, urinary, gastrointestinal ...
Related Pictures
★リンクテーブル★
[★]
ゴルツ症候群、Goltz症候群
- 関
- focal dermal hypoplasia、Goltz syndrome
[★]
- 英
- focal dermal hypoplasia
- 関
- ゴルツ症候群、巣状皮膚低形成
[★]
- 英
- focal dermal hypoplasia
- 関
- 部分皮膚低形成
[★]
- 焦点の、焦点を通る
- (病変が)限局性の、局所の、病巣の、巣状の
- 関
- circumscribed、definite、focal point、focally、foci、focus、local、localized、locally、nidal、nidus、topical、topically
[★]
- 関
- corium、cutaneous、cutis、dermis、percutaneous、skin、transdermal、transepidermal
[★]
- 関
- abortion、abortive、agenesis、、dysgenesis、hypotrophy
- 無形成、aplasia、aplastic