Edit concept Question Editor Create issue ticket

Upper Limb Hypertrophy

Upper Extremity Hypertrophy


Presentation

  • Case presentation: A 16-year-old boy presented with multiple port-wine stain type vascular anomalies and varicose veins.[omicsonline.org]
  • Failures of formation and differentiation of the fingers and hand plate, duplication, and overgrowth, as well as other generalized anomalies, are then presented in detail, including symbrachydactyly, syndactyly, Apert syndrome, polydactyly, amniotic band[books.google.de]
  • The evolutionary changes of skeletal muscles should be investigated to explain this congenital phenomenon and might be classified in a different entity from the present categories.[ncbi.nlm.nih.gov]
  • Herein we report a case of KTS with a rare presentation. A 45-year-old male presented with an ulcer over the left ankle. On examination, dilated tortuous veins were present all over the left lower limb including gluteal region.[idoj.in]
  • We present the case of a 16-year-old female presenting with proximal muscle weakness with calf hypertrophy diagnosed to be late onset Pompe's disease.[amhsjournal.org]
Hand Deformity
  • Two cases of congenital isolated hypertrophy of the left upper limb with different hand deformities are described. A 4-year-old girl had splayed fingers and an abducted thumb due to anomalous muscles.[ncbi.nlm.nih.gov]
  • Hand deformities are not due to a part of progression of the disease but result of imbalance of the extrinsic and intrinsic muscles.[ncbi.nlm.nih.gov]
  • deformity, phalangeal agenesis and hip joint dislocation [ 35 ].[omicsonline.org]

Workup

  • After clinico-radiological workup, other causes of localized gigantism were ruled out, and provisional diagnosis of MDL was made, which was subsequently confirmed by histopathology.[e-ijd.org]
  • Because of the mild enlargement, its nonprogressive nature, and the absence of other abnormalities, no further workup (such as muscle biopsy or search for a somatic mutation in PIK3CA) was performed.[karger.com]

Treatment

  • Complete with plentiful photographs and illustrations to guide the clinician in preparing for and performing the necessary treatments, this is an essential book for hand surgeons, orthopedists and plastic surgeons.[books.google.de]
  • Apply the latest treatments, rehabilitation protocols, and expertise of leading surgeons and therapists to help your patients regain maximum movement after traumatic injuries or to improve limited functionality caused by chronic or acquired conditions[books.google.com]
  • Management Although most patients do well without treatment, management of this syndrome includes careful diagnosis, prevention and treatment of complications [ 45 ].[omicsonline.org]
  • Management and treatment Management includes surgical correction of facial malformations, surgical and/or orthopedic treatment of limb defects and management of the cognitive disabilities. Prognosis Prognosis is relatively unfavorable.[orpha.net]
  • If more extensive, embolization and surgical debulking can be an effective palliative treatment. Occasionally if massive and the AVM has overtaken the majority of the substance of the limb the only surgical option can be amputation.[austinpublishinggroup.com]

Prognosis

  • Prognosis Prognosis is relatively unfavorable. High mortality in the newborn period or early childhood is due to cardiac or renal malformations. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • However, the management and prognosis of these two syndromes are distinctly different. The diagnosis of KTS is merely clinical and the treatment is conservative unless complications occur [ 3 ].[omicsonline.org]
  • This condition has to be differentiated from other causes of localized gigantism, since these conditions differ in their course, prognosis, complications and treatment.[e-ijd.org]
  • […] gastrointestinal or genitourinary hemorrhage if there is visceral involvement (see above) If capillary malformations are large enough, they may sequester platelets, possibly leading to the Kasabach-Merritt syndrome (consumptive coagulopathy) Treatment and prognosis[radiopaedia.org]
  • The prognosis of this disorder is uncertain. Venous vascular malformations span a wide spectrum, varying from isolated cutaneous ectasias to voluminous lesions involving manifold tissues and organs.[link.springer.com]

Etiology

  • Etiology The precise etiology is unknown. The KTS syndrome is generally thought to occur sporadically [ 16 ].[omicsonline.org]
  • Rhabdomyolysis may also be seen with infectious etiologies, alcohol, and toxic exposures.[clevelandclinicmeded.com]
  • Etiology The disease is caused by mutations in the ESCO2 gene (8p21.1), which encodes a protein belonging to the Eco1/Ctf7 family of acetyltransferases, involved in the establishment of sister chromatid cohesion during S phase.[orpha.net]
  • The etiology is unknown and does not seem to be confined to a peripheral nerve, part of the plexus or nerve root. The condition is assumed to be congenital.[karger.com]
  • The etiology of the Klippel Trenaunay syndrome. Ann Surg 1985;202:624-7. [ PUBMED ] 7. Advoet GE, Jorens PG, Roelen LM. Genetic aspects of Klippel Trenaunay syndrome. Br J Dermatol 1992;126:603-7. 8. Samuel M, Spitz L.[ijdvl.com]

Epidemiology

  • Summary Epidemiology The prevalence and incidence are not known. Less than 150 cases have been described in the literature. Clinical description Upper limbs are more frequently and severely affected than lower limbs.[orpha.net]
  • Introduction Asymmetry between the right and left sides of the body to a greater degree than can be attributed to normal variation abnormal asymmetry defined as a 5% or greater difference in length and/or circumference Epidemiology incidence varies from[orthobullets.com]
  • Table 1 Clinical Features of Common Myopathies Myopathy Epidemiology Distribution of Weakness Other Systemic Manifestations Acquired Myopathies Dermatomyositis Female male Peak incidence: children and ages 40–60 yr Symmetrical proximal muscle weakness[clevelandclinicmeded.com]
Sex distribution
Age distribution

Pathophysiology

  • […] defined as a 5% or greater difference in length and/or circumference Epidemiology incidence varies from 1:14,000 to 1:86,000 demographics male:female 2:3 location slightly more common on the right side may also involve head, trunk and internal organs Pathophysiology[orthobullets.com]
  • P. (2012) Pathophysiology of post-operative scars. European surgery, 44, 68-73. doi: 10.1007/s10353-011-0064-5 Shan, M., Hafeez, S., & Mehmood, K. T. (2010) Management of burns. Journal of pharmaceutical sciences and research, 8, 492-498.[en.wikiversity.org]
  • Back to Top Pathophysiology Disruption of the structural integrity and metabolic processes of muscle cells can result from genetic abnormalities, toxins, inflammation, infection, and hormonal and electrolyte imbalances.[clevelandclinicmeded.com]

Prevention

  • Immobilization of the joint provides protection and support to the graft as it takes hold and heals to prevent breakdown and infection.[en.wikiversity.org]
  • In addition, physical therapy is very important during the lengthening process, as it can help prevent stiffness once the limb becomes longer.[childrensortho.com]
  • Along with treating injuries when they happen, we work to prevent and treat effects that can come later. For children, these effects may include growth problems if the growth plates at the ends of their bones are damaged.[seattlechildrens.org]
  • Intraoperative use of tourniquet will decrease bleeding and selective use of an inferior vena cava filter will prevent pulmonary embolism [ 3 ].[omicsonline.org]
  • Leg-length differences should be treated with orthotic devices to prevent the development of spinal deformities, corrective bone surgery may be needed to treat significant leg-length discrepancy 6.[orion-group.net]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!