DefinePK

Abstract

Introduction


Originally described by Van Meekeren in 1682, this condition was further clarified by Ehlers in 1901, and Danlos in 1908 (Smith; 1976). More than 100 cases have been described in literature; this is probably the first reported case in Pakistan.
Other syndsomes of this condition are Cutis Hyperelastica, India-Rubber Man, and
Derma-torrhexis.
This is a generalised disorder of connective tissue which primarily affects skin and ligaments, but other parts of the body may also become, involved. The defects are the result of single defective gene. McKusick (1966) in an exhaustive review, described various clinical types of the syndrome with distinctive clinical, genetic and biochemical features.
The classical syndrome has been found to have the following features:
(1) Skin manifestations: Velvety, hyperelastic and fragile skin with poor wound healing. There are "cigarette paper" scars called molluscoid pseudotumour, over knees and shin in older children. The skin bruises easily. Minor traumas are likely to produce gaping "Fish mouth" wounds which hold sutures poorly. Friable tissues create difficulties at operation.
(2) Joints and Skeletal Defects: Extreme laxity of joints leads to genu recurvatum, habitual dislocation of various joints, flat feet and kyphoscoliosis. Other skeletal defects include small stature, down sloping, ribs and talepes equinovarus.
(3) Internal Defects: Diaphragmatic hernia, diverticuli of gastro-intestinal and respiratory tract, spontaneous pneumothorax, dissecting aneurysm of the aorta.
(4) Eye Defects: Myopia, microcornea, kera-tocornea, glaucoma, retinal detachment.
(5) Facial features: Narrow maxilla, wide nasal bridge.
(6) Biochemical changes: Some patients have collagen with an abnormally low hydroxylys ine content. Measurement of activity of the enzyme lysyol-proto hydroxylase in cultured fibroblasts, in some patients, revealed approximately l/8th of normal value. In others the enzyme procollagen peptidase has been found to be defective.
The biochemical defects are not universal and it seems that the underlying basic defect varies from patient to patient, which would explain various clinical types and modes of inheritance.