Antecubital pterygium syndrome

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Classification according to ICD-10
Q79.8 Other congenital malformations of the musculoskeletal system
ICD-10 online (WHO version 2019)

The antecubital pterygium syndrome , Latin pterygium cubitale, is a rare malformation with the main characteristic of a congenital pterygium (wing skin) in the elbow with inhibition of extension.

Synonyms are: wing skin; Flying skin; english congenital webbed elbow; cutaneus web

Spread and cause

The pterygium can be unilateral or bilateral. The frequency is given as less than 1 in 1,000,000, the inheritance is probably autosomal dominant .

The cause has not yet been clarified; familial accumulation and autosomal dominant and recessive inheritance have been reported.

In the context of syndromes

A cubital wing skin can occur in the following syndromes :

pathology

The wing skin runs from the upper arm over the elbow to the forearm and fixes a flexion position, the upper arm muscles are atrophic or absent, the muscle attachments are atypically further distal. In addition, there are changes to the humeral bone and the proximal radioulnar joint with subluxation of the radial head to the dorsal side.

Clinical manifestations

In addition to the visible change and the fixed flexion contracture, there may be other malformations:

Ulna hypoplasia , syndactyly , oligodactyly , campto- and clinodactyly .

Outside the skeleton , the heart or the genitourinary system can also be affected.

therapy

Due to the changes to the muscles, the joint and the course of the vascular nerve bundles, a promising treatment proves to be difficult.

history

The first description probably comes from the year 1903 by F. Zahrt .

The term "pterygium syndrome" was coined in 1969 by Charles I. Scott .

literature

  • KM Girisha, H. Abdollahpour, H. Shah, GS Bhavani, JM Graham, VR Boggula, SR Phadke, K. Kutsche: A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis. In: American journal of medical genetics. Part A. Vol. 164A, No. 4, April 2014, pp. 1035-1040, doi: 10.1002 / ajmg.a.36381 , PMID 24458843 .
  • A. Richieri-Costa: Antecubital pterygium and cleft lip / palate presenting as signs of the nail-patella syndrome: report of a Brazilian family. In: American journal of medical genetics. Vol. 38, No. 1, January 1991, pp. 9-12, doi: 10.1002 / ajmg.1320380103 , PMID 2012138 .
  • CE Wallis, M. Shun-Shin, PH Beighton: Autosomal dominant antecubital pterygium: syndromic status substantiated. In: Clinical genetics. Vol. 34, No. 1, July 1988, pp. 64-69, PMID 3409540 .

Individual evidence

  1. ^ A b Pterygium syndrome, antecubitales. In: Orphanet (Rare Disease Database).
  2. ↑ a b c d C. J. Wirth, L. Zichner, AK Martini: Orthopedics and Orthopedic Surgery. In: W. Winkelmann (editor): Tumors, tumor-like diseases , Georg Thieme Verlag, 2003, ISBN 3-13-126181-1
  3. ^ J. Hall: Somatic and germ-line mosaicism in autosomal dominant antecubital pterygium. In: Clinical genetics. Vol. 37, No. 2, February 1990, p. 160, PMID 2311269 .
  4. ↑ M. SHUN-SHIN: Congenital web formation. In: The Journal of bone and joint surgery. British volume. Vol. 36-B, No. 2, May 1954, pp. 268-271, PMID 13163114 .
  5. ^ S. Elias, L. Boelen, JL Simpson: Syndromes of camptodactyly, multiple ankylosis, facial anomalies, and pulmonary hypoplasia. In: Birth defects original article series. Vol. 14, No. 6B, 1978, pp. 243-251, PMID 728565 .
  6. ^ HR Song, SH Cho, KH Koo, ST Jung, HS Shin: Treatment of antecubital pterygium in the nail-patella syndrome. In: Journal of pediatric orthopedics. Part B. Vol. 7, No. 1, January 1998, pp. 27-31, PMID 9481653 .
  7. ↑ F. Zahrt: About a case of hereditary flight skin formation on the elbows. Dissertation: Leipzig, 1903.
  8. ^ CI Scott: Pterygium syndrome. In: D. Bergsma, (Ed.): 1st Conference on Clinical delineation of birth defects, Part II, Malformation syndromes. In: Birth Defects , Vol. 2, 1969, p. 231

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