Kindler syndrome in native Americans from Panama: report of 26 cases. Arch Dermatol 2004 Aug;140(8):939-44
Date
08/18/2004Pubmed ID
15313809DOI
10.1001/archderm.140.8.939Scopus ID
2-s2.0-4043167157 (requires institutional sign-in at Scopus site) 77 CitationsAbstract
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.
Author List
Penagos H, Jaen M, Sancho MT, Saborio MR, Fallas VG, Siegel DH, Frieden IJMESH terms used to index this publication - Major topics in bold
AdolescentAdult
Child
Child, Preschool
Female
Humans
Indians, North American
Infant
Male
Panama
Pedigree
Photosensitivity Disorders
Rothmund-Thomson Syndrome
Syndrome
