Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 30-yr-old white female with a history of focal dermal hypoplasia (Goltz syndrome), chronic gastroesophageal reflux, and dysphagia was found to have, by barium esophagram and esophagogastroduodenoscopy, multiple 2- to 3-mm papillary projections in the distal esophagus and an esophageal stricture. Biopsy of these lesions revealed squamous papillomas and a benign stricture. Although chronic irritation from gastroesophageal reflux has been suggested as a possible etiology of acquired esophageal papillomas, the previous association of congenital papillomas of the oral mucosa in Goltz syndrome suggests that the multiple papillomas in this patient are congenital in origin.
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PMID:Multiple squamous papillomas of the esophagus associated with Goltz syndrome. 367 98

A 14-year-old girl with focal dermal hypoplasia (Goltz-Gorlin-syndrome) presented with dysphagia, hoarseness, inspiratory stridor, intermittent dry cough and a 10% weight loss. Endoscopy showed that these symptoms were caused by papillomatosis of the hypopharynx and the larynx. The papillomatous masses were resected subtotally by endoscopic laser treatment. Residual papillomas were left in the subglottic space but tracheotomy could be avoided. Complete clinical recovery with adequate weight gain as well as, resolution of dyspnoe and dysphagia resulted after the intervention. Histological examination did not show morphological signs of human papilloma virus as an etiological agent.
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PMID:Focal dermal hypoplasia (Goltz-Gorlin syndrome) associated with obstructive papillomatosis of the larynx and hypopharynx. 1058 28

Focal dermal hypoplasia is a rare congenital syndrome with dominant X-linked mode of inheritance characterized by a wide range of meso-ectodermal anomalies. The clinical variation is great, as explained by the Lyon hypothesis and mosaicism. Findings include skin atrophy along the lines of Blaschko and papillomas. Our case is striking with rapidly-growing giant pharyngeal papillomas which caused dysphagia and required resection.
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PMID:[Giant papillomas of the tongue and pharynx in focal dermal hypoplasia: a case report]. 2168 41

Oesophageal duplication cysts are a rare congenital anomaly of the foregut which usually present in infancy with respiratory symptoms, recurrent pneumonia and feeding difficulty. Other presenting symptoms depend on the location of the cyst and can include dysphagia, chest pain, arrhythmias and features of mediastinal compression. Treatment is usually surgical resection, recommended for complete resolution of symptoms, histological diagnosis and exclusion of malignancy. Here, we present a case of infected oesophageal duplication cyst which presents as a neck lump in a 43-year-old female with a background of Goltz syndrome, azygos fissure and congenital aortic stenosis. Surgical resection was decided against owing to the patient's high risk secondary to co-morbidities and instead ultrasound guided drainage was carried out successfully. The patient was symptom free and well at 1-year follow-up. Oesophageal duplication is an unusual presentation of a neck lump in an adult and whilst the usual treatment is surgical resection, we present here a case treated in an entirely different manner.
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PMID:Oesophageal duplication cysts, a rare cause of neck lump treated by ultrasound guided drainage: case report and review of the literature. 2554 6

Focal dermal hypoplasia (FDH) is a rare disorder of the mesodermal and ectodermal tissues. Here we present an eight-year-old female known to have FDH who presents with poor weight gain and dysphagia. She was diagnosed with multiple esophageal papillomas and eosinophilic esophagitis. She was successfully treated with argon plasma coagulation and ingested fluticasone propionate, which has not been described previously in a child.
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PMID:Esophageal squamous papillomas with focal dermal hypoplasia and eosinophilic esophagitis. 2840 53

Esophageal squamous cell carcinoma (ESCC) is the predominant type of esophageal carcinoma worldwide. It occurs mostly in the upper and middle thirds of the esophagus. We present the case of a young African American woman with Goltz syndrome who presented with dysphagia and weight loss and was found to have distal esophageal papillomatosis and squamous cell carcinoma. This occurrence of ESCC in an atypical location in a young woman without traditional risk factors is suggestive of malignant transformation of underlying papillomatosis. Goltz syndrome is a rare disorder, occasionally associated with esophageal papillomatosis. Although esophageal papillomatosis is considered to be benign, our case shows that it could have malignant potential and hence is likely worthy of surveillance.
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PMID:A Rare Case of Squamous Cell Carcinoma of the Esophagus in a Patient With Goltz Syndrome. 3162 Apr 95

Goltz syndrome or focal dermal hypoplasia (FDH), is an X-linked dominant condition which predominantly involves the skin, limbs and eyes. In otolaryngology, FDH has been poorly described, but can result in increased symptoms of obstructive sleep apnoea requiring surgery. There have also been documented cases of mixed severe hearing loss secondary to congenital ossicular anomalies. More frequently, patients present to the ear-nose-throat clinic with symptoms of dysphagia, secondary to papillomatosis. A 36-year-old woman presented with pain, irritation and dysphagia with a known diagnosis of FDH. She was subsequently investigated with an oesophago-gastro-duodenoscopy, Barium Swallow and an MRI neck scan with contrast. Lymphoid hyperplasia was found on investigation and the patient underwent a panendoscopy with CO2 laser to the lesion with good clinical outcome. This case report highlights the need for multidisciplinary team involvement to ensure full consideration of management options.
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PMID:Rare and unusual case of familial focal dermal hypoplasia (Goltz syndrome) presenting to otolaryngology in the UK. 3181 Nov 8