Esophagus cancer and IgA deficiency in a patient with dubowitz syndrome: a case report.
Summary of "Esophagus cancer and IgA deficiency in a patient with dubowitz syndrome: a case report."
Dubowitz syndrome was first described in 1965 by the English physician Dr. Victor Dubowitz. This genetic disorder causes growth retardation both before and after birth. It is primarily diagnosed through the distinctive facial features of affected individuals, including a small triangular-shaped face with a high forehead and wide-set, slitted eyes. The main method of diagnosis is through identification of facial phenotype. Esophageal mass biopsy revealed squamous cell carcinoma type. Both malignancy and IgA deficiency have been reported literature in patients with Dubowitz syndrome. However, Esophagus cancer has not been reported among the malignant tumors. Herein, we reported a patient with Dubowitz syndrome, IgA deficiency and Esophagus cancer.
Affiliation
Journal Details
This article was published in the following journal.
Name: The Tokai journal of experimental and clinical medicine
ISSN: 2185-2243
Pages: 29-30
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/21769769
- DOI: http://dx.doi.org/
Medical and Biotech [MESH] Definitions
Plummer-vinson Syndrome
A syndrome of DYSPHAGIA with IRON-DEFICIENCY ANEMIA that is due to congenital anomalies in the ESOPHAGUS (such as cervical esophageal webs). It is known as Patterson-Kelly syndrome in the United Kingdom.
Hamartoma Syndrome, Multiple
A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.
Hexosaminidase A
A mammalian beta-hexosaminidase isoform that is a heteromeric protein comprized of both hexosaminidase alpha and hexosaminidase beta subunits. Deficiency of hexosaminidase A due to mutations in the gene encoding the hexosaminidase alpha subunit is a case of TAY-SACHS DISEASE. Deficiency of hexosaminidase A and HEXOSAMINIDASE B due to mutations in the gene encoding the hexosaminidase beta subunit is a case of SANDHOFF DISEASE.
Karnofsky Performance Status
A performance measure for rating the ability of a person to perform usual activities, evaluating a patient's progress after a therapeutic procedure, and determining a patient's suitability for therapy. It is used most commonly in the prognosis of cancer therapy, usually after chemotherapy and customarily administered before and after therapy. It was named for Dr. David A. Karnofsky, an American specialist in cancer chemotherapy.
Esophageal Neoplasms
Tumors or cancer of the ESOPHAGUS.
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