Ehlers Danlos syndrome

Synonym(s)

Cutis hyperelastica

Definition

Heterogeneous group of inherited connective tissue disorders characterized by joint hypermobility, skin fragility, and hyperex-tensibility

Pathogenesis

Specific collagen defect has been identified in 6 of the 11 types: Type IV - decreased

Elastolysis 203

Synonym(s)

Elastofibroma dorsi

Elastofibroma

Synonym(s)

Elastofibroma dorsi

Ehlers Danlos syndrome. Marked joint hypermobility of digits

Ehlers Danlos syndrome. Marked joint hypermobility of digits type III collagen; types V and VI - deficiencies in hydroxylase and lysyl oxidase; type VII - amino-terminal procollagen pepti-dase deficiency; type IX - abnormal copper metabolism; type X - nonfunctioning plasma fibronectin

Clinical manifestation

Findings common to all subtypes: skin hyperextensible, doughy, white, and soft, with underlying vessels sometimes visible; small, spongy tumors (molluscoid pseudotumors) over scars and pressure points; smaller palpable, and movable calcified nodules in subcutaneous tissue; nodules in arms and over tibias; skin fragility, with frequent bruises, lacerations, and poor wound healing; hyperextensible joints, with frequent dislocations

Differential diagnosis

Pseudoxanthoma elasticum; cartilage-hair syndrome; cutis laxa; Turner's syndrome; Marfan syndrome

Definition

Benign, slow growing, connective tissue tumor, occurring most often in the sub-scapular area in elderly women

Pathogenesis

Possibly related to trauma by mechanical friction of the scapula against the ribs in some cases

Clinical manifestation

Well-circumscribed, painless or slightly tender tumor in the subscapular area in elderly women

Differential diagnosis

Lipoma; cyst; leiomyoma; sarcoma; metastasis; fibromatosis

Therapy

Surgical excision in symptomatic patients

References

Bieger AK, Varma SK, Timmons MJ (1994) Elastofibroma dorsi: case report and brief review. Annals of Plastic Surgery 32(5^548-549

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