Retrospective diagnosis of Kindler syndrome in a 37-year-old man.
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.
Thomson
M A
MA
Department of Dermatology, Birmingham Children's Hospital, Birmingham, UK. michelle.thomson@uhcw.nhs.uk
Ashton
G H S
GH
McGrath
J A
JA
Eady
R A J
RA
Moss
C
C
D000328:Adult; D001284:Atrophy; D001768:Blister / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005192:Family Health; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics; D010375:Pedigree; D010859:Pigmentation Disorders / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D012867:Skin / Q000473:pathology*; D013577:Syndrome
C475301:FERMT1 protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins