porokeratosis is a genetic disease transmitted as an autosomal dominant trait featuring abnormal epidermal keratinization , which is histologically characterized by the presence of cornoid lamella .
since then many variants of porokeratosis have been described , each with differing morphology , distribution , and clinical course .
familial adenomatous polyposis ( fap ) is characterized by numerous adenomatous colorectal polyps that have an intrinsic tendency to progress to adenocarcinoma .
fap with extra - intestinal lesions such as epidermoid cysts , osteomas , desmoid tumors , dental anomalies is called gardner 's syndrome .
the association of porokeratosis of mibelli with gardner 's syndrome is extremely rare without any recorded cases in the literature , prompted us to report this case .
an 18-year - old female of low socio - economic status presented to skin opd with complaints of multiple skin lesions all over the body and swellings on the face , scalp , and extremities of five years duration .
lesions started to develop on the scalp insidiously , and later on left mandible , face , and extremities .
clinical examination of the patient revealed multiple skin plaques present on the face , forearms , back and both lower extremities with elevated margin with a prominent deep furrow and central part showed normal skin [ figure 1 ] .
fluctuant skin swellings were observed on the scalp and back of trunk , with punctum [ figure 2 ] . over the body of left ramus of mandible
a clinical diagnosis of porokeratosis of mibelli , epidermoid cysts , and osteoma of mandible was made .
family history of the index case revealed father had dysphagia , pain abdomen with episodes of bleeding per rectum , and ultimately died of us suspected gastrointestinal ( git ) origin malignancy .
biopsy of the skin plaques , along with the excision biopsy of cystic swelling over scalp and bony hard swelling of left mandible was done .
because of the family history and clinical presentation ( sebaceous cysts and osteoma ) , a colonoscopy was done which revealed a solitary rectal polyp of 1  1.5 cm in size situated 7.0 cm from anal verge .
porokeratosis of mibelli histopathological examination of the plaque lesions of skin revealed a keratin filled invagination of the epidermis , the center of which showed parakeratotic column ( interpreted as cornoid lamella ) .
bone lesion showed the histopathology of a benign osteoma showing mature osteocytes [ figure 5 ] .
histopathological examination of rectal polyp showed hyperplastic polyp of rectal mucosa with focal adenomatous change , mild nonspecific inflammation , cystic change , congested vessels with no evidence of malignancy [ figure 6 ] .
parakertotic column ( cornoid lamella ) in porokeratosis mibelli , ( h and e , 100 ) osteoma with mature osteocytes ( h and e , 200 ) hyperplastic polyp of rectal mucosa with focal adenomatous change ( h and e , 100 )
the clinical picture , family history and multiple lesions diagnosed histologically in the index patient , we contemplated the possibility of porokeratosis of mibelli with an evolving gardner 's syndrome .
gardner 's syndrome start with a few polyps in the 10 - 20 year age group and develop into its full blown clinical picture by the fourth decade of the patient , with an intrinsic tendency to progress to adenocarcinoma .
it is caused by a germline mutation in the adenomatous polyposis coli ( apc ) gene located on the long arm of chromosome 5 .
the mandible is the most common location ; however , osteomas may occur in the skull and the long bone .
osteomas precede the clinical and radiographic evidence of colonic polyposis , therefore , they may be sensitive markers for the disease .
porokeratosis is a heterogeneous group of disorders characterized by distinct clinical findings of a keratotic ridge with a central groove that corresponds to the cornoid lamellae on histology .
etiopathogenesis of porokeratosis is unknown but genetic inheritance as well as acquired form has been reported .
heredity , immunosuppression , infection , and ultraviolet rays have been found to play a role in the causation of porokeratosis .
no specific candidate gene has been found . however , genetic loci of disseminated superficial actinic porokeratosis have been detected in the region 12q23.2 - 24.1 ( dsap 1 ) and 15q25.1 - 26.1 ( dsap 2 ) . recently
, another loci has been found within an 8.2 cm or 11.9 mb region between markers d1s438 and d1s464 ( dsap 3 ) .
larger lesions have higher malignant potentiality , particularly , the giant variety that is most frequently reported to show malignant transformation .
malignancies reported in porokeratosis are squamous cell carcinoma , bowen 's disease , basal cell carcinoma , diffuse large b - cell lymphoma , etc .
porokeratosis in association with lichen planus , diabetes mellitus , cap syndrome ( craniosynostosis , anal anomalies , and porokeratosis ) , bloom 's syndrome , cystic fibrosis etc , have been reported.[711 ] to the best of our knowledge this is the first case reported of porokeratosis of mibelli with gardener 's syndrome .
 porokeratosis represents a heterogeneous group of disorders characterized clinically by a distinctive ridge - like border and histologically by cornoid lamellae . 
 gardner 's syndrome , a variant of familial adenomatous polyposis ( fap ) , is an autosomal dominant disease characterized by colorectal polyps , osteomas , epidermoid cysts and soft tissue tumors . here 
 we report a case of 18 yr old female who presented with porokeratosis of mibelli with osteoma , multiple epidermoid cytsts , and solitary rectal polyp . 
INTRODUCTION
CASE REPORT
DISCUSSION