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1.
J Cutan Med Surg ; 5(3): 228-30, 2001.
Article in English | MEDLINE | ID: mdl-11685670

ABSTRACT

BACKGROUND: In 1997, it was reported that a PTEN gene deletion, a common genetic mutation in Cowden's disease (CD), was identified in a patient with Bannayan-Riley-Ruvacalba (BRR), suggesting that the two diseases were allelic. However, the clinical overlap between the two diseases has largely remained unclear. OBJECTIVE: To confirm the genetic and clinical association in a family segregating both CD and BRR. METHODS: Clinical evaluation and genetic analysis using a denaturing gradient gel electrophoresis (DGGE), temporal temperature gradient electrophoresis (TTGE), and DNA sequencing techniques. RESULTS: Our patient presents with typical BRR clinical manifestations, including multiple lentigines on his penis, while his mother presents with typical manifestations of CD, including multiple malignancies. Genetic analyses of leukocytes from the patient and his mother showed mutations in exon 8 that was identified as the presumably truncating mutation R335X. CONCLUSION: This report provides clinical evidence that both BRR and CD are closely related and confirms the PTEN gene mutation in BRR and CD patients segregating in the same family, thus confirming the genetic linkage between the two genodermatoses.


Subject(s)
Abnormalities, Multiple/genetics , Craniofacial Abnormalities/genetics , Genetic Linkage , Hamartoma Syndrome, Multiple/genetics , Lentigo/genetics , Phosphoric Monoester Hydrolases/genetics , Tumor Suppressor Proteins/genetics , Child , Diagnosis, Differential , Gene Deletion , Germ-Line Mutation , Humans , Intellectual Disability/genetics , Lentigo/pathology , Male , PTEN Phosphohydrolase , Penile Diseases/genetics , Penile Diseases/pathology , Syndrome
2.
J Cutan Med Surg ; 5(4): 312-4, 2001.
Article in English | MEDLINE | ID: mdl-11907842

ABSTRACT

BACKGROUND: We report a patient with chronic lymphocytic leukemia (CLL) that developed recurrent vesicobullous lesions that histologically demonstrated features of an exaggerated response to an arthropod bite. OBJECTIVE: Patients with CLL can present with many cutaneous manifestations, including specific and nonspecific lesions. Although rare, patients with CLL can develop an exaggerated response to an arthropod bite. CONCLUSION: Emphasis needs to be placed on the clinical recognition of arthropod bites as an unusual cutaneous manifestation of CLL, as they provide the physician with both a diagnostic and a therapeutic challenge. Patients often deny being bitten and, thus, the biopsy results conflict with the patient's history. Additionally, as there is no specific treatment, both the patient and physician are faced with a similar dilemma. Although our patient initially responded well to corticosteroids, his lesions significantly improved while being treated with dapsone.


Subject(s)
Arthropods , Blister/diagnosis , Insect Bites and Stings/diagnosis , Leukemia, Lymphocytic, Chronic, B-Cell/complications , Adrenal Cortex Hormones/therapeutic use , Animals , Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Biopsy , Blister/drug therapy , Blister/pathology , Dapsone/therapeutic use , Diagnosis, Differential , Humans , Insect Bites and Stings/drug therapy , Insect Bites and Stings/pathology , Male , Middle Aged , Recurrence , Skin/pathology
3.
Cathet Cardiovasc Diagn ; Suppl 3: 69-72, 1996.
Article in English | MEDLINE | ID: mdl-8874932

ABSTRACT

Although rotational ablation has been successful in the treatment of complex coronary lesions, periprocedural complications of microvascular-mediated ischemia (slow flow or no reflow) and coronary vasospasm may occur. In an attempt to reduce such complications, a drug cocktail consisting of a combination of verapamil 10 micrograms/ml, nitroglycerin 4 micrograms/ml, and heparin 20 U/ml was infused in 21 consecutive patients with AHA/ACC Type B2 and C lesion morphology. A total of 27 lesions were treated, with a procedural success rate of 95%. One patient required emergency bypass surgery. Coronary vasospasm occurred in 7% (2/27 lesions). Only one lesion (3.7%) was associated with a transient reduction in TIMI flow that resolved within 5 min, and none had classical no-reflow. No patient developed intraluminal thrombus, and none had hypotension requiring inotropic support. All patients had prophylactic temporary pacemakers inserted. All RCA and circumflex lesions and 50% of LAD stenoses required transient pacing. A "cocktail" infusion of verapamil, nitroglycerin, and heparin mixed in pressurized saline delivered through the 4-French Teflon sheath of the Rotablator system during rotational ablation is associated with high success and low complication rates. Transient AV block is frequent, especially when treating RCA and circumflex arteries; therefore, prophylactic pacing is indicated.


Subject(s)
Anticoagulants/administration & dosage , Atherectomy, Coronary/methods , Coronary Disease/surgery , Heparin/administration & dosage , Intraoperative Complications/prevention & control , Nitroglycerin/administration & dosage , Vasodilator Agents/administration & dosage , Verapamil/administration & dosage , Aged , Cardiac Pacing, Artificial , Coronary Vasospasm/prevention & control , Drug Combinations , Feasibility Studies , Female , Humans , Infusions, Intra-Arterial , Intraoperative Care , Male , Pilot Projects
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