Kindler syndrome in native Americans from Panama: report of 26 cases.
OBJECTIVE
To investigate the clinical, genetic, and laboratory features of 26 patients with Kindler syndrome.


METHODS
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.


METHODS
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.


METHODS
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.
Penagos
Homero
H
Chiriqui Regional Hospital, David, Panama. clinpiel@chiriqui.com
Jaen
Marta
M
Sancho
Mario T
MT
Saborio
Manuel R
MR
Fallas
Victor G
VG
Siegel
Dawn H
DH
Frieden
Ilona J
IJ
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007198:Indians, North American / Q000235:genetics*; D007223:Infant; D008297:Male; D010176:Panama / Q000453:epidemiology; D010375:Pedigree; D010787:Photosensitivity Disorders / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D011038:Rothmund-Thomson Syndrome / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D013577:Syndrome