Popliteal pterygium syndrome
| Classification according to ICD-10 | |
|---|---|
| Q79.8 | Other congenital malformations of the musculoskeletal system, popliteal pterygium syndrome |
| ICD-10 online (WHO version 2019) | |
A popliteal pterygium syndrome (PPS) is a very rare congenital disease with an inherited gene defect that the face , the limbs and the genital area concerned.
The term PPS was coined by Gorlin in 1968 on the basis of the extremely rare malformation , the popliteal pterygium (an adhesion in the hollow of the knee ).
Synonyms are: popliteal pterygium syndrome, autosomal dominant; Faciogenitopopliteal Syndrome; Popliteal wing skin syndrome; facial-genito-popliteal syndrome; Fèvre-Languepin syndrome; English Popliteal Pterygium Syndrome; CLEFT LIP / PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES
The first description comes from the year 1948 by E. Lewis .
Clinical features
Symptoms of popliteal pterygium syndrome vary widely, but include the following:
- Findings on the limbs: A cord of connective tissue runs from the hollow of the knee down to the heel (90%), syndactyly .
- Findings on the face: cleft lip and palate with or without cleft lip (75%), lower lip fistula (40%) and adhesions in the pharynx ( synechiae ) (25%)
- Findings in the genital area (50%): hypoplasia of the labia majora , malformation of the scrotum and abnormal position of the testicle
Epidemiology
The diagnosis of PPS has been made in various ethnic groups including Caucasian, Japanese, and Sub-Saharan African. Men and women are equally affected by this syndrome. Since the malformation is very rare, the number of people affected is difficult to estimate. It is estimated at about 1 in 300,000.
There is also a lethal form .
genetics
The gene locus for PPS was discovered on the first chromosome in 1999. The malformation is autosomal - dominant inherited. It arises due to a mutation of the IRF6 gene at locus 1q32.2.
Similarity to Van der Woude syndrome
The Van der Woude syndrome (VDWS) and the popliteal Pterygiumsyndrom (PPS) are allelic variants of the same change caused by different mutations of the same gene. PPS contains all the features of the VDWS plus the popliteal pterygium, synechiae, pronounced toe / nail abnormalities, syndactyly , and genitourinal malformations.
See also
Individual evidence
- ↑ William James, Timothy Berger, Dirk Elston: Andrews' Diseases of the Skin: Clinical Dermatology . 10th edition. Saunders, 2005, ISBN 0-7216-2921-0 , pp. 577 .
- ^ RJ Gorlin, HO Sedano, J. Cervenka: Popliteal pterygium syndrome. A syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies . In: Pediatrics . tape 41 , no. 2 , February 1968, p. 503-509 , PMID 4384166 ( aappublications.org ).
- ↑ G. Freiherr von Salis-Soglio, P. Dufek, U. Froster-Iskenius: The Fèvre-Languepin syndrome: a case description . In: Journal for orthopedics and their border areas . tape 124 , no. 2 . Thieme, 1986, p. 144-147 .
- ↑ E. Lewis: Congenital webbing of the lower limbs. In: Proceedings of the Royal Society of Medicine , Vol. 41, 1948, p. 864
- ↑ medterms.com
- ↑ SN Parikh, AH Crawford, TT Do, DR Roy: Popliteal pterygium syndrome: implications for orthopedic management . In: J Pediatr Orthop B . tape 13 , no. 3 , May 2004, pp. 197-201 , PMID 15083121 ( wkhealth.com ).
- ↑ UG-freezer Iskenius: popliteal pterygium syndrome . In: J. Med. Genet. tape 27 , no. 5 , May 1990, pp. 320–326 , doi : 10.1136 / jmg.27.5.320 , PMID 2352260 , PMC 1017084 (free full text).
- ↑ Popliteal Pterygium Syndrome, autosomal dominant. In: Orphanet (Rare Disease Database).
- ↑ popliteal pterygium syndrome 1. In: Online Mendelian Inheritance in Man . (English)
- ↑ FK Wong, U. Hagg: An update on the aetiology of orofacial clefts . In: Hong Kong Med J . tape 10 , no. 5 , October 2004, p. 331-336 , PMID 15479962 ( hkmj.org ).