Pyle disease
Dernière mise à jour 18 Aug 2020
Respecte les directives éditoriales
- TéléchargerTélécharger
- Partager
- Language
- Discussion
- Version audio
- Ajouter aux sources préférées sur Google
Pyle disease is a disorder of the bones. Its hallmark feature is an abnormality of the long bones in the arms and legs in which the ends (metaphyses) of the bones are abnormally broad; the shape of the bones resembles a boat oar or paddle. The broad metaphyses are due to enlargement of the spongy inner layer of bone (trabecular bone). Although trabecular bone is expanded, the dense outermost layer of bone (cortical bone) is thinner than normal. As a result, the bones are fragile and fracture easily. The bone abnormalities in the legs commonly cause knock knees (genu valgum) in affected individuals.
Description
Pyle disease is a disorder of the bones. Its hallmark feature is an abnormality of the long bones in the arms and legs in which the ends (metaphyses) of the bones are abnormally broad; the shape of the bones resembles a boat oar or paddle. The broad metaphyses are due to enlargement of the spongy inner layer of bone (trabecular bone). Although trabecular bone is expanded, the dense outermost layer of bone (cortical bone) is thinner than normal. As a result, the bones are fragile and fracture easily. The bone abnormalities in the legs commonly cause knock knees (genu valgum) in affected individuals.
Other bone abnormalities can also occur in Pyle disease. Affected individuals may have widened collar bones (clavicles), ribs, or bones in the fingers and hands. Dental problems are common in Pyle disease, including delayed appearance (eruption) of permanent teeth and misalignment of the top and bottom teeth (malocclusion).
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Metaphyseal dysplasia, Pyle type
Pyle metaphyseal dysplasia
Pyle's disease
Pyle's metaphyseal dysplasia syndrome
Related patient information and medicines
Patient information leaflet
Maladie de La Peyronie
Peyronie's disease causes a curved or bent penis. It is caused by scar tissue forming along the shaft of the penis. This causes painful erections and a bend or curve, usually about halfway along the penis. The change in shape is usually only obvious when the penis is erect. Peyronie's disease symptoms Initial symptoms of Peyronie's disease.
Patient information leaflet
Maladie polykystique des reins
La maladie polykystique des reins (PKD) provoque le développement de nombreux sacs remplis de liquide (kystes) dans les reins. The most common type of PKD is an inherited condition called autosomal dominant polycystic kidney disease (ADPKD). With ADPKD, problems commonly do not develop until the age of 30-50, with some people never developing any problems. The two common.
Patient information leaflet
Plaque dentaire et maladie des gencives
A build-up de la plaque et tartar can lead to inflamed and infected gums. Mild gum disease is called gingivitis and is not usually serious. More severe gum disease (periodontitis), can lead to teeth falling out. These three tissues are collectively called the peridontium. Gum disease (periodontal disease) is a general term given to an infection or.
Patient information leaflet
Maladies liées à l'amiante
People exposed to asbestos peuvent develop diseases dans later life. These most commonly affect the lungs but can also affect the lining of the tummy (abdomen). Some conditions - for example, mesothelioma or lung cancer - are more serious than others. This leaflet gives a brief overview of the diseases that are related to having an exposure to asbestos.
Patient information leaflet
maladie de Parkinson
La main symptoms of Parkinson's disease are usually stiffness, shaking (tremor), and slowness of movement. People with Parkinson's may also develop other symptoms (listed below). maladie de Parkinson est a progressive neurological degeneration of certain cells (called dopaminergic cells) within a specific part of the brain (substantia nigra). The.
Patient information leaflet
Maladie du foie et alcool
Abus d'alcool can lead to three main types of liver diseases: fatty liver , hepatitis and 'scarring' of the liver ( cirrhosis ). It can also lead to other health problems. This leaflet also includes information about non-alcoholic fatty liver disease. Many of us enjoy an occasional alcoholic drink. It's been suggested that a small amount of.
Lectures complémentaires et références
- Pyle disease; MedlinePlus, National Library of Medicine.
- Galada C, Shah H, Shukla A, Girisha KM. A novel sequence variant in SFRP4 causing Pyle disease. J Hum Genet. 2017 Apr;62(5):575-576. doi: 10.1038/jhg.2016.166. Epub 2017 Jan 19.
- Haraguchi R, Kitazawa R, Mori K, Tachibana R, Kiyonari H, Imai Y, Abe T, Kitazawa S. sFRP4-dependent Wnt signal modulation is critical for bone remodeling during postnatal development and age-related bone loss. Sci Rep. 2016 Apr 27;6:25198. doi: 10.1038/srep25198.
- Kiper POS, Saito H, Gori F, Unger S, Hesse E, Yamana K, Kiviranta R, Solban N, Liu J, Brommage R, Boduroglu K, Bonafe L, Campos-Xavier B, Dikoglu E, Eastell R, Gossiel F, Harshman K, Nishimura G, Girisha KM, Stevenson BJ, Takita H, Rivolta C, Superti-Furga A, Baron R. Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease. N Engl J Med. 2016 Jun 30;374(26):2553-2562. doi: 10.1056/NEJMoa1509342.
- Wonkam A, Makubalo N, Roberts T, Chetty M. Pyle metaphyseal dysplasia in an African child: Case report and review of the literature. S Afr Med J. 2016 May 25;106(6 Suppl 1):S110-3. doi: 10.7196/SAMJ.2016.v106i6.11011.
Participez à la conversation
Partagez vos pensées ou expériences avec les autres dans notre communautés de patients.
Demandez, partagez, connectez-vous.
Parcourez les discussions, posez des questions et partagez vos expériences sur des centaines de sujets de santé.
Inscrivez-vous à la newsletter Patient
Votre dose hebdomadaire de conseils de santé clairs et fiables - rédigés pour vous aider à vous sentir informé, confiant et maître de la situation.
En vous abonnant, vous acceptez notre Politique de confidentialité. Vous pouvez vous désabonner à tout moment. Nous ne vendons jamais vos données.