Amana Nasir, Faizah N Bhatti, Tabish Hazir, Nadeem Haider, M Naeem uz Zafar Khan.
Cutis Laxa or Elastolysis : A Rare Disease.
J Coll Physicians Surg Pak Nov ;7(2):82-4.

Cutis Laxa is an extremely rare condition with profound physical and psychological effects on the patient. Although the appearance of the patient may be improved by extensive plastic surgical procedures, the mortality occurs mainly due to pulmonary complications. Because of laxity of connective tissue, various types of hernias are associated with this condition. We are reporting the management of a case of Cutis Laxa with a giant hiatal hernia and severe respiratory problems.

Case Report: A male patient aged 5-years was admitted with history of recurring respiratory tract infection. On examination he had drooping of the cheeks and wrinkling of the facial skin i.e. the classical bloodhound appearance together with generalized laxity (Fig. 1). His joints demonstrated normal movements while the X-ray chest showed bilateral pneumonia and a shadow with air fluid level on the right side. On the lateral view, the shadow was seen occupying the posterior mediastinum. A barium swallow (Fig. 2) demonstrated a giant hiatal hernia; two thirds of the stomach had slipped through the lax oesophageal hiatus into the right side of the thoracic cavity. Blood investigations revealed a haemoglobin level of 10.3gms/100ml and a WBC of count 9800/ul. He was managed initally on broad spectrum antibiotics, humidification and parenteral fluids with little improvement. Hence, surgery was performed. Through separate left thoracotomy my and midline upper abdominal incisions the stomach was manipulated back into the abdomen (Fig. 3) and the lax oesophageal hiatus repaired from above by interrupted stitches. From below, the crura were repaired and fundoplication performed. Post-operative period was complicated by pneumonia and dehiscense of abdominal wound which had to be re-sutured. He ultimately recovered and was sent home. He still has respiratory problems but these are not so severe as they were before.

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