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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）』「2016/07/30 05:39:17」(JST)

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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]

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.

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

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. 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

Goltz 症候群の1例

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

症例 Goltz症候群の1例

大森睦美,高原正和,中村暁子 [他]
西日本皮膚科 73(2), 148-151, 2011-04
NAID 40018816330

「focal dermal hypoplasia」

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;
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