The pain may also be misdiagnosed as a behavior disorder or Munchausen by proxy.The pain associated with EDS ranges from mild to debilitating. Causes
Every type of EDS except the hypermobile type (which affects the vast majority of people with EDS) can be positively tied to specific genetic variation. Variations in these genes can cause EDS:
Collagen primary structure and collagen processing: ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
Collagen folding and collagen cross-linking: PLOD1, FKBP14
Structure and function of myomatrix: TNXB, COL12A1
Glycosaminoglycan biosynthesis: B4GALT7, B3GALT6, CHST14, DSE
Complement pathway: C1R, C1S
Intracellular processes: SLC39A13, ZNF469, PRDM5Variations in these genes usually alter the structure, production, or processing of collagen or proteins that interact with collagen. Collagen provides structure and strength to connective tissue. A defect in collagen can weaken connective tissue in the skin, bones, blood vessels, and organs, resulting in the features of the disorder. Inheritance patterns depend on the specific syndrome. Most forms of EDS are inherited in an autosomal dominant pattern, which means only one of the two copies of the gene in question must be altered to cause a disorder. A few are inherited in an autosomal recessive pattern, which means both copies of the gene must be altered for a person to be affected. It can also be an individual (de novo or "sporadic") variation. Sporadic variations occur without any inheritance. Diagnosis
A diagnosis can be made by an evaluation of medical history and clinical observation. The Beighton criteria are widely used to assess the degree of joint hypermobility. DNA and biochemical studies can help identify affected people.
The tumour is described as invasive and is clinically characterised by faster growth than the benign chondroid syringoma. They can generally be diagnosed when presenting "an epithelial component, eccrine or apocrine differentiation and myoepithelial component of fluctuating prominence" (IADVL, 2004). Diagnosis is recommended to follow microscopic analysis to ensure correct examination. Treatment
There currently is no established guideline for the standardised treatment of malignant chondroid syringomas, due to their rarity. However, the efficacy of treatment for malignant mixed tumours depends on the time of diagnosis. An immediate and broad surgical excision "with clear margins" (Tural, Selçukbiricik, Günver, Karışmaz, and Serdengecti, 2013) is considered curative and to be the most successful treatment. This treatment aims for the most efficacious disease control. It is largely agreed that chemotherapy and radiotherapy are ineffective yet are sometimes still recommended, yet radiotherapy reacts positively to skeletal metastasis. Combination chemotherapy for MCS is reported as unbeneficial. MCS is reported to have a high and continual risk of recurrence of metastasis, some patients experiencing metastasis nearly twenty years after the primary examination. Thus this necessitates consistent clinical follow-up in order to maintain a benign state of the tumour and achieve disease control. Prognosis
Malignant mixed tumours have a poor prognosis that is deemed unpredictable due to its spread being lymphatic or blood-borne. As there have only been a limited number of cases that have been reported, prognostic points are challenging to confirm, however mainly "include size, histological type, lymph node involvement, and distant metastasis" (Garcia, Atun, and Fernando, 2016).