What is A 14-ycars-old girl on exposure to cold has pallor of extremities followed by pain and cyanosis. In later ages of life she is prone to develop: and explain in detail?
Ans. B. Scleroderma (Ref: Harrison 19/e p2154, 18/e p2437; Schiwartz 9/e p846-847]Pallor of extremities on exposure to cold that is followed by pain and cyanosis suggests Raynauds phenomenon. A female patient with Raynaud's phenomenon should be evaluatedfor possibility of scleroderma or any other connective tissue disease.Raynaud's phenomenon is thefirst manifestation ofscleroderma in almost every patient with the disease and is precedes other symptoms in 70% of cases. ""The interval between Raynaud's phenomenon and appearance of other manifestations is generally brief if seeks to months) in diffuse scleroderma, while in limited scleroderma the period of onset between Raynaud s phenomenon and systemic manifestations is commonly several years. ""Scleroderma is a rare disorder hut it initially presents with Raynaud's phenomenon which is quite frequent in the general population."Scleroderma* Systemic disease accompanied by esophageal abnormalities in 80% of patients.* In most, the disease follows a prolonged course0.* Raynaud's phenomenon occurs due to microvascular involvement.* Microvascular disease is consistently present early in the course of systemic sclerosis.* Intimal proliferation is evident in 100% of digital arteries in the patients.* Renal involvement occurs in a small percentage of patients and signals a poor prognosis.* The onset of the disease is usually in the third or fourth decade of life* Occurring twice as frequently in women0 as in men.Pathophysiology:* In the G1 tract, the predominant feature is smooth muscle atrophy.* Smooth muscle atrophy in lower two third of esophagus -Incompetent LES - GERD - StrictureNormal peristalsis in the proximal striated esophagus, with absent peristalsis in the distal smooth muscle portion.* LES pressure is progressively weakened as the disease advances.Gastroesophageal reflux commonly occurs in patients with scleroderma, because they have both hypotensive sphincters and poor esophageal clearance.This combined defect can lead to severe esophagitis and stricture formation.Clinical Features:* Dysphagia and GERDPostural dysphagia for liquids: Dysphagia for liquids in recumbent position, not in upright position* Dysphagia for solids is unrelated to posture* Raynaud's phenomenon is the first manifestation of scleroderma in almost every patient with the disease and is precedes other symptoms in 70% of cases.Scleroderma is a rare disorder but it initially presents with Raynaud's phenomenon which is quite frequent in the general population.Diagnosis:Manometry:Normal peristalsis in the proximal striated esophagus, with absent peristalsis in the distal smooth muscle portion LES pressure is decreased but sphincter relaxation to deglutition is normal(Barium Swallow: Dilated, barium-filled esophagus, stomach, and duodenum, or a hiatal hernia with distal esophageal stricture and proximal dilatation.Treatment:* PPIs, antacids, elevation of the head of the bed. and multiple dilations for strictures for reflux* Esophageal shortening may require a Collis gastroplasty in combination with a partial fundoplication.* Surgery reduces esophageal aeid exposure, but does not return it to normal because of the poor clearance function of the body of the esophagus0.