UNASSIGNED: Background: @entity2639 ( @entity2639 ) is a rare @entity74 of @entity19012 , @entity9335 and progressive @entity2641 . Mucous membranes may also be involved. @entity2639 is caused by mutations in the @entity53713 gene encoding @entity53713 . Objectives: We report the clinical and molecular features of the largest kindred with @entity2639 to date, comprising 18 affected family members (age range: 12-63 years) from the Gaza Strip. Materials and methods: All the affected family members were clinically examined. In addition a skin biopsy for immunofluorescence testing was obtained from the index case. Molecular analysis of the @entity53713 gene was performed on genomic DNA extracted from peripheral blood of 5 @entity1 . Results: All @entity1 presented @entity8492 , cutaneous @entity194 , dyschromia and @entity2641 , oral cavity involvement, @entity1282 and @entity1142 with anal fissures. In addition, @entity5806 and digit webbing were observed in most of them. Ocular manifestations detected in all @entity1 comprised ectropion and @entity9849 , with early development of symblepharon in 17 out of 18 cases and @entity1939 in one. Of note, 17 out of 18 affected family members also suffered from @entity3832 since childhood. Diagnosis was supported by immunofluorescence findings and definitely confirmed by @entity53713 sequencing which identified the homozygous frame-shift mutation @entity68728 . Conclusions: The high rate of @entity33 , its early onset and progressive course are noticeable features of our kindred. Also noteworthy is the lack of muco-cutaneous @entity5 , despite the sunny habitat.

XXXX with severe @entity33 in a large Palestinian pedigree.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity19012 :: ('MESH:C536183', 'Disease') :: ['skin fragility'] @entity5806 :: ('MESH:D009260', 'Disease') :: ['nail dystrophy'] @entity9849 :: ('MESH:D007637', 'Disease') :: ['keratoconjunctivitis'] @entity2639 :: ('MESH:C536321', 'Disease') :: ['Kindler syndrome', 'KS'] @entity33 :: ('MESH:D052016', 'Disease') :: ['mucosal involvement'] @entity5 :: ('MESH:D009369', 'Disease') :: ['malignancies'] @entity1939 :: ('MESH:D001766', 'Disease') :: ['blindness'] @entity8492 :: ('MESH:D012868', 'Disease') :: ['skin and eye photosensitivity'] @entity9335 :: ('MESH:D010787', 'Disease') :: ['photosensitivity'] @entity74 :: ('MESH:D030342', 'Disease') :: ['autosomal recessive disease'] @entity194 :: ('MESH:D001284', 'Disease') :: ['atrophy'] @entity2641 :: ('MESH:D011038', 'Disease') :: ['poikiloderma'] @entity1282 :: ('MESH:D003680', 'Disease') :: ['dysphagia'] @entity3832 :: ('MESH:D014525', 'Disease') :: ['urethral strictures'] @entity1142 :: ('MESH:D003248', 'Disease') :: ['constipation'] @entity53713 :: ('55612', 'Gene') :: ['FERMT1', 'kindlin-1'] @entity68728 :: ('c|DEL|137_140|TAGT', 'DNAMutation') :: ['c.137_140delTAGT']
@entity2639 :: (MESH:C536321,Disease) :: ['Kindler syndrome']
