Genetic focus: 20p12.3 (KIND1 gene that encodes kindlin-1)
Inheritance: autosomal recessive
Major criteria:
(1) acral blistering following minor trauma, with onset during infancy or early childhood
(2) progressive poikiloderma
(3) skin atrophy, especially on the dorsa of the hands and feet and over the abdomen
(4) photosensitivity
(5) gingival swelling and/or fragility
Minor criteria:
(1) syndactyly
(2) mucosal involvement with stenosis (urethral, anal, esophageal, laryngeal)
Associated findings:
(1) nail dystrophy
(2) ectropion of the lower lid
(3) palmoplantar keratoderma
(4) pseudoainhum (ainhum = constricting fibrous band on a toe)
(5) leucokeratosis of the lips
(6) squamous cell carcinoma
(7) hypohidrosis or anhydrosis
(8) skeletal abnormalities
(9) dental caries, periodontitis, poor dentition
|
Major Criteria
|
Minor Criteria or Associated Findings
|
Diagnosis
|
|
>= 4
|
NA
|
certain
|
|
3
|
>= 2
|
probable
|
|
2
|
>= 2
|
likely
|
