Retrospective diagnosis of Kindler syndrome in a 37-year-old man.

TY - JOUR

T1 - Retrospective diagnosis of Kindler syndrome in a 37-year-old man.

AU - Thomson, M A

AU - Ashton, G H

AU - McGrath, J A

AU - Eady, R A

AU - Moss, C

PY - 2006/1

Y1 - 2006/1

N2 - Kindler syndrome is a rare autosomal recessive disorder characterized by acral blisters in infancy and early childhood, followed by photosensitivity, progressive poikiloderma and cutaneous atrophy. Other features include webbing of the toes and fingers, palmoplantar hyperkeratosis, gingival fragility, poor dentition, and mucosal involvement in the form of urethral, anal and oesophageal stenosis. The recent finding of KIND1 mutations in Kindler syndrome facilitates early diagnosis, prophylactic measures and more precise definition of the phenotype. In the family described here, molecular diagnosis of Kindler syndrome in an infant with acral blisters led to the belated diagnosis in a severely affected relative whose condition had remained unidentified for 37 years

AB - Kindler syndrome is a rare autosomal recessive disorder characterized by acral blisters in infancy and early childhood, followed by photosensitivity, progressive poikiloderma and cutaneous atrophy. Other features include webbing of the toes and fingers, palmoplantar hyperkeratosis, gingival fragility, poor dentition, and mucosal involvement in the form of urethral, anal and oesophageal stenosis. The recent finding of KIND1 mutations in Kindler syndrome facilitates early diagnosis, prophylactic measures and more precise definition of the phenotype. In the family described here, molecular diagnosis of Kindler syndrome in an infant with acral blisters led to the belated diagnosis in a severely affected relative whose condition had remained unidentified for 37 years

U2 - 10.1111/j.1365-2230.2005.01930.x

DO - 10.1111/j.1365-2230.2005.01930.x

M3 - Article

SN - 1365-2230

VL - 31

SP - 45

EP - 47

JO - Clinical and Experimental Dermatology

JF - Clinical and Experimental Dermatology

IS - 1

ER -