Generalised cutis laxa

Introduction

Cutis laxa is a rare condition characterised by loose inelastic skin which hangs in folds. It may be congenital or acquired.[1] The basic pathology common to both varieties is a deficiency of elastic fibres.[2] Organs other than the skin may be involved, resulting in emphysema, aortic aneurysm, intestinal diverticulosis and multiple hernias.[2]

Case Report

A 44 year-old man presented with progressive laxity of skin, which started 14 years back around eyelids and axillae and spread gradually to the face, neck, trunk and groins. Associated with this the patient developed dysphagia to solids, joint pains and hoarseness of voice with repeated bouts of productive cough since 1 year. There was no history of parental consanguinity and none in his family had similar skin disease.

On examination the skin showed laxity with delayed elastic recoil. Sagging of skin around the eyelids, cheeks and neck produced typical ′blood hound′ like facies. On the trunk and upper extremities there were dilated tortuous superficial vessels. Scars of operated inguinal hernia were present on both sides. Opthalmological examination showed dermatochalasis and entropion of upper eyelid, crystalline keratopathy and metallic sheen at macula. [Figure - 1]

Serum electrolytes, liver function tests, renal function tests, complete hemogram, blood sugar, ANA, VDRL, X-ray chest (PA) and skull (AP and lateral view) were normal. Urine Bence Jones protein and serum eletrophoresis for M - band were negative.

Barium swallow was suggestive of oesophageal and pharyngeal diverticuli with regurgitation of barium in tracheo bronchial tree. Skin biopsy with haematoxylin and eosin stain did not show any inflammation. Elastic stain (Verhoeff van Gieson′s stain) revealed decreased and degenerated elastic fibres in upper dermis. [Figure - 2]

Discussion

Generalised cutis laxa is characterised clinically by lax pendulous skin and histologically by loss of elastic tissue in dermis.[1] Most comm- on form of inheritance is autosomal recessive, characterised by ′blood hound′ facies and internal organ involvement. Autosomal dominant type has 2 variants: Adult onset which is mainly cutaneous and infantile onset which is generalised cutaneous form. Acquired form may develop following episodes of urticaria, angio -oedema or febrile illness.[2] Cutis laxa may be associated with SLE, complement deficiency, sarcoidosis syphilis, and multiple myeloma.[3],[5]

Pathogenesis of cutis laxa involves disruption of balance between elastase inhibitor and elastase and also decreased synthesis of elastin by skin fibroblasts.[6] Our case had bilateral inguinal hernia, pharyngeal and oesophageal diverticuli, recurrent episodes of aspiration pneumonia along with generalised cutis laxa. The case is reported for its rarity and though it clinically fits into classical autosomal recessive type, the family history was negative and duration of disease was 14 years. Investigations for acquired causes were negative. Patient is on regular follow up.