Pyle syndrome
| Classification according to ICD-10 | |
|---|---|
| Q78.5 | Metaphyseal Dysplasia - Pyle Syndrome |
| ICD-10 online (WHO version 2019) | |
The Pyle syndrome is a rare congenital disease belonging to the skeletal dysplasia with swellings of the metaphyses of the long bones , hence the term metaphyseal dysplasia , which is sometimes used synonymously .
Synonyms are: Pyle's disease; Metaphyseal Dysplasia Pyle; Familial metaphyseal dysplasia
It was first described in 1931 by the American orthopedic surgeon Edwin Pyle (1891–1961).
distribution
The frequency is given as less than 1 in 1,000,000, so far only about 30 patients have been described. Inheritance is autosomal - recessive .
root cause
The underlying cause is not yet known.
Clinical manifestations
Clinical criteria are:
- Genoa valga
- occasional extension inhibition in the elbow joint
- Expansion of the collarbones and ribs
diagnosis
The following pioneering changes can be found in the X-ray image :
- Erlenmeyer flask- like (widening of the metaphysis without a cup) swelling of the metaphyses of the long tubular bones reaching into the diaphysis , less evident on the short tubular bones
- Corpse hyperostosis of the skullcap without narrowing of the foramina
- Platyspondyly
Differential diagnosis
Other diseases in which an Erlenmeyer flask deformity can occur are to be distinguished:
- Metaphyseal dysplasia Braun-Tinschert type
- Fibrous dysplasia
- Thalassemia , major form
- Gaucher's disease
- Erythropoietic protoporphyria
- Sickle cell anemia , homozygous form
- Mastocytosis # Systemic mastocytosis ( Urticaria pigmentosa )
- Niemann-Pick disease
- Rickets , treated
- Dyschondrosteosis Léri Weill
- chronic bismuth or lead poisoning
- osteoporosis
- Pycnodysostosis
- Frontometaphyseal Dysplasia
- Osteodysplasia type Melnick-Needles ( Melnick-Needles syndrome )
- Craniometaphyseal Dysplasia
- Osteoectasia with hyperphosphatasia (Juvenile Paget's disease)
literature
- MA Faden, D. Krakow, F. Ezgu, DL Rimoin, RS Lachman: The Erlenmeyer flask bone deformity in the skeletal dysplasias. In: American journal of medical genetics. Part A. Vol. 149A, No. 6, June 2009, pp. 1334-1345, doi: 10.1002 / ajmg.a.32253 , PMID 19444897 , PMC 2836257 (free full text) (review).
- N. Gupta, M. Kabra, CJ Das, AK Gupta: Pyle metaphyseal dysplasia. In: Indian pediatrics. Vol. 45, No. 4, April 2008, pp. 323-325, PMID 18451455 .
- EF Percin, S. Percin, E. Koptagel, H. Demirel: A case with Pyle type metaphyseal dysplasia: clinical, radiological and histological evaluation. In: Genetic counseling (Geneva, Switzerland). Vol. 14, No. 4, 2003, pp. 387-393, PMID 14738111 .
- P. Beighton: Pyle disease (metaphyseal dysplasia). In: Journal of Medical Genetics . Vol. 24, No. 6, June 1987, pp. 321-324, PMID 3612703 , PMC 1050096 (free full text)
- MS Raad, P. Beighton: Autosomal recessive inheritance of metaphyseal dysplasia (Pyle disease). In: Clinical genetics. Vol. 14, No. 5, November 1978, pp. 251-256, PMID 709903 .
Individual evidence
- ^ Pyle Disease. In: Online Mendelian Inheritance in Man . (English)
- ↑ a b c Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ who named it
- ^ E. Pyle: Case of unusual bone development. In: Journal of Bone and Joint Surgery Vol. 13, 1931, pp. 874-876.
- ↑ a b Pyle syndrome. In: Orphanet (Rare Disease Database).
- ↑ K. Ebel, E. Willich, E. Richter (Eds.): Differentialdiagnostik in der Pediatric Radiologie. Thieme 1995, Vol. I, S 280f, ISBN 3-13-128101-4
