kindler syndrome ( ks ) is a rare autosomal recessive genodermatosis , which was first described in a 14-year - old girl in 1954 by kindler and later by forman et al . in 1989 .
more than 120 cases have been reported since the original report by kindler ; the largest series being a cluster of 26 patients identified within a tribe in the bocas del toro province on the northwestern caribbean coast of panama .
the syndrome is a combination of features of inherited blistering skin disorders ( e.g. , dystrophic epidermolysis bullosa ) and congenital poikilodermas ( e.g. , rothmund - thompson syndrome ) and should be differentiated due to clinical overlap with hereditary acrokeratotic poikiloderma ( hap ) and dystrophic epidermolysis bullosa .
apart from the skin changes , changes in the oral and conjunctival mucosa , phimosis and radiological changes , namely a dome - shaped skull ( turricephaly ) , rib and mandibular abnormalities have been reported .
other features that vary between cases include acral hyperkeratosis , nail dystrophy , webbing and contractures of the fingers and toes , alopecia , actinic changes , pigmentation of lips and onchodystrophy .
the association of aggressive periodontitis with ks was based on a single case in 1996 and later confirmed with a larger population of patients .
a number of oral features have been described , such as gingival swelling , advanced periodontal bone loss , mild - to - severe gingivitis , dental caries , and leukokeratosis of buccal mucosa .
dental findings had been briefly reported for kindler patients in dermatologic and pediatric publications including oral lesions , atrophy of buccal mucosa , limited oral opening , malocclusion , dystrophic teeth , ankyloglossia , bleeding gums , lip erosions and geographic tongue , atrophy of gingiva , erosion of the hard palate , gingival swelling and desquamative gingivitis .
a 16-year - old female patient presented with the chief complaint of bleeding gums , ulcerations of buccal mucosa , missing teeth and difficulty in swallowing .
patient 's mother reported that she had two children ; one was healthy physically and mentally . both of her pregnancies and deliveries were normal , but history of the affected child revealed skin blisters beginning at the age of 3 months .
these blisters were filled with clear fluid and left scars after their rupture , and occurred until the age of 1 year .
cutaneous examination revealed multiple hypopigmented and a few hyperpigmented macules of variable sizes , distributed over his face , neck , trunk , and limbs [ figure 1 ] .
skin over the hands and neck was dry , atrophic and photosensitive to the sunlight .
areas of hyper- and hypo - pigmentation on face absence of palmar creases hyperkeratotic plaques on the flexures scarring was evident on the soft tissues of the buccal mucosa and tongue .
tongue showed reduced mobility and was quite hard due to fibrosis [ figure 4 ] .
in certain areas , erythema extended to mucogingival junction ; resulting in appearance of desquamative gingivitis [ figure 5 ] .
desquamative gingivitis restricted mouth opening due to fibrosed commissures orthopantomograph showed areas of moderate bone loss around all the teeth present .
multiple congenitally missing teeth , and retained deciduous teeth were reported [ figure 7 ] .
orthopantomograph showing retained deciduous and congenitally missing permanent teeth histopathologic examination of atrophic skin lesions in patients with ks reveals nonspecific features of poikiloderma .
the epidermis is flattened and atrophic ; edema is present at the dermoepidermal junction , and the basal layer shows focal vacuolization with basal cell degeneration .
other histologic features include a prominence of dermal capillaries , pigmentary incontinence , and possibly , perivascular lymphocytic infiltrate .
a 16-year - old female patient presented with the chief complaint of bleeding gums , ulcerations of buccal mucosa , missing teeth and difficulty in swallowing .
patient 's mother reported that she had two children ; one was healthy physically and mentally . both of her pregnancies and deliveries were normal , but history of the affected child revealed skin blisters beginning at the age of 3 months .
these blisters were filled with clear fluid and left scars after their rupture , and occurred until the age of 1 year .
cutaneous examination revealed multiple hypopigmented and a few hyperpigmented macules of variable sizes , distributed over his face , neck , trunk , and limbs [ figure 1 ] .
skin over the hands and neck was dry , atrophic and photosensitive to the sunlight .
areas of hyper- and hypo - pigmentation on face absence of palmar creases hyperkeratotic plaques on the flexures
tongue showed reduced mobility and was quite hard due to fibrosis [ figure 4 ] .
deep pockets with marked bleeding on minimal probing were present around the teeth . in certain areas , erythema extended to mucogingival junction ; resulting in appearance of desquamative gingivitis [ figure 5 ] .
multiple congenitally missing teeth , and retained deciduous teeth were reported [ figure 7 ] .
histopathologic examination of atrophic skin lesions in patients with ks reveals nonspecific features of poikiloderma .
the epidermis is flattened and atrophic ; edema is present at the dermoepidermal junction , and the basal layer shows focal vacuolization with basal cell degeneration .
other histologic features include a prominence of dermal capillaries , pigmentary incontinence , and possibly , perivascular lymphocytic infiltrate .
in 2003 , siegel et al . mapped the disease locus to band 20p12.3 by using linkage and homozygosity analysis in an isolated cohort of patients with ks .
loss - of - function mutations were identified in the candidate gene flj20116 , which was renamed kindlin-1 ( kind1 ) .
this gene encodes a 677-amino acid protein , kind1 , which is thought to play a regulatory role in inhibiting oversecretion of basement membrane components by basal keratinocytes at the dermoepidermal junction .
an autosomal recessive pattern of transmission is usual , but sporadic cases are not uncommon . in ks , there is an unusual interruption and reduplication of the basement membrane and a broad reticular pattern of type vii collagen staining deep into the connective tissue beneath the basement membrane . it has also been suggested that ks and weary 's hap are variants of the same disease . however , the mode of inheritance , onset of blistering , photosensitivity and presence of eczema is different in these two syndromes .
the level of ultrastructural cleavage for blistering appears to be junctional in ks and intraepidermal in hap .
the dominant cutaneous findings in ks are increased skin fragility , acral blistering , photosensitivity , atrophy , and poikiloderma .
although increased skin fragility may be explained by the weakening of basal keratinocyte - extracellular matrix adhesion , the pathomechanisms of other features such as photosensitivity and skin atrophy remain unclear .
mucosal involvement is very common and may lead to urethral , anal and esophageal stenosis . our patient presented with acral blisters in the neonatal period and childhood , diffuse poikiloderma , skin fragility and atrophic changes , which were more prominent on skin exposed areas .
a set of clinical diagnostic criteria has recently been proposed for this condition to facilitate clinical diagnosis .
the major criteria are acral blistering in infancy and childhood , progressive poikiloderma , skin atrophy , photosensitivity , and gingival fragility , and/or swelling .
the additional features of these criteria are nail dystrophy , ectropion , palmoplantar keratoderma , leukokeratosis of lips , squamous cell carcinoma , anhidrosis , skeletal abnormalities , and dental problems . according to the proposed criteria ,
the presence of four major criteria makes the diagnosis certain , the presence of three major and two minor criteria makes the diagnosis probable , and diagnosis is considered to be likely if two major and two minor / additional features are present . according to these criteria a definitive diagnosis of ks was made .
several conditions that can cause blistering , cutaneous atrophy , and/or poikilodermatous skin changes must be differentiated from ks . ks might be difficult to differentiate from variants of epidermolysis bullosa in newborns .
progressive improvement of blistering , photosensitivity , poikilodermatous changes , and cutaneous atrophy with age help to differentiate ks from epidermolysis bullosa . in dystrophic epidermolysis bullosa
, there is a mutation in the gene encoding type vii0 collagen ( cola7a0 ) distinguishing it from ks .
rothmund - thomson syndrome shows poikiloderma and photosensitivity like ks , but additional features like sparse hair , hypogonadism , and cataracts in the former condition distinguish it from ks .
bloom 's syndrome is characterized by telangiectasia and photosensitivity with the presence of erythema on the face and other sun - exposed areas without showing true poikiloderma .
short stature , recurrent infections , and increased frequency of hematological malignancies are also features of this disease .
patients with cockayne 's syndrome develop erythema in photo - distributed areas , atrophy , and hyperpigmentation .
the associated features of dwarfism , cachexia , progressive pigmentary retinopathy , deafness , and birdlike faces differentiate cockayne 's syndrome from ks .
reticulated hyperpigmentation , nail dystrophy , and leukoplakia are characteristic features of dyskeratosis congenita . unlike ks ,
the pigmentary changes are not truly poikilodermatous and bullae are not an important feature of this rare genodermatosis .
good wound care including the use of topical and systemic antibiotics for infected bullous lesions and ulcerations might reduce the morbidity .
patients usually have a normal life span , but significant morbidity may be caused by secondary infections of congenital blisters ; mucosal involvement leading to urethral , anal and esophageal stenosis ; aggressive periodontitis , and ocular complications .
 kindler syndrome is a rare hereditary disorder , associated with skin fragility . 
 the syndrome involves the skin and mucous membrane with radiological changes . 
 the genetic defect has been identified on the short arm of chromosome 20 . 
 this report describes a 16-year - old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma . 