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Kindler Syndrome in Native Americans From Panama
Report of 26 Cases
Homero Penagos, MD;
Marta Jaen, MD;
Mario T. Sancho, MD;
Manuel R. Saborio, MD;
Victor G. Fallas, MD;
Dawn H. Siegel, MD;
Ilona J. Frieden, MD
Arch Dermatol. 2004;140:939-944.
Objective To investigate the clinical, genetic, and laboratory features of 26 patients with Kindler syndrome.
Design Case series of patients recruited when they were seen at outpatient consultations in the Department of Dermatology at the Changuinola Hospital in Bocas del Toro, Panama, between May 1986 and December 1990.
Setting Clinical history, physical examination, and laboratory studies were done at a community hospital in Panama. Twelve of the patients had further studies performed at a children's hospital in Costa Rica.
Patients A total of 26 patients were entered into the study. They were members of the Ngöbe-Buglé tribe and resided in isolated villages in rural Panama.
Results The major findings were skin fragility with blistering (100%), poikiloderma (96%), photosensitivity (92%), severe cutaneous atrophy (89%), hyperkeratosis of the palms and soles (81%), congenital acral blisters (81%), severe periodontal disease (81%), and phimosis (80% of male subjects). In 1 large family with 10 patients, inheritance of Kindler syndrome followed that of an autosomal recessive disease. Karyotypes in 3 patients and 1 unaffected father were normal. Findings from ultrastructural studies showed replication of lamina densa in 10 patients.
Conclusions To our knowledge, this study represents the largest series to date of patients with Kindler syndrome. The clinical features confirm previously reported cases, and segregation analysis confirms its autosomal recessive inheritance. We also report severe phimosis as a complication, which has not been previously described in this syndrome.
From Chiriqui Regional Hospital, David (Dr Penagos), and Changuinola Hospital, Changuinola (Dr Jaen), Social Security Bureau of Panama; National Children Hospital, San José, Costa Rica (Drs Sancho and Saborio), and Mexico Hospital, Social Security Bureau of Costa Rica, and University of Costa Rica, San José (Dr Fallas); and Departments of Dermatology (Drs Siegel and Frieden) and Pediatrics (Dr Frieden), University of California, San Francisco. The authors have no relevant financial interest in this article.
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