reed 's syndrome refers to the onset of uterine leiomyomas with cutaneous leiomyomas , the latter occurring segmentally or affecting a particular dermatome , that are classified into type 1 and 2 .
type 1 is caused by a novel postzygotic segmental mutation ; type 2 reflects an additional postzygotic loss of heterozygosity of the gene locus responsible for cutaneous leiomyomatosis in an initially heterozygous embryo .
loss of heterozygosity is a genetic process when a heterozygous cell becomes homozygous or hemizygous by loosing the corresponding wild - type allele .
this phenomenon can be regarded as a precondition for tumor growth in type 2 cases , the segmental manifestation is more distinctive with additional disseminated disease because of a germline mutation with heterozygosity of all somatic cells outside the strongly affected area .
a subset of individuals with reed 's syndrome is predisposed to develop papillary renal cell carcinoma .
herein , we report such rare occurrence of familial myomatosis cutis et uteri with type 2 segmental variety .
a 50-year - old female presented to us with history of developing multiple brown painful lesions which appeared initially over her left leg .
they extended to appear insidiously over trunk , chest , and upper limbs about 25 years back which extended to appear insidiously despite excision of the left leg lesion .
she also underwent hysterectomy , owing to menorrhagia and multiple uterine fibromas , 25 years ago . dermatological examination revealed multiple tender , hyperpigmented papulonodules over the left lower limb , trunk , right side of the chest , and bilateral upper limbs [ figures 1a , b and 2a , b ] .
a clinical suspicion of leiomyomas was confirmed by histopathological findings of a circumscribed tumor in the dermis composed of bundles of smooth muscles cells arranged in an interlacing and whorled pattern , having abundant eosinophilic cytoplasm and elongated nuclei with blunt ends .
deep red color with masson 's trichome confirmed smooth muscle fibers [ figure 3a , b ] .
gynecological consultation for her daughter 's complaints of menorrhagia revealed uterine fibroids . a diagnosis of familial myomatosis cutis et uteri , segmental type 2 was made .
( a ) unilateral distribution of leiomyomas on the left leg , ( b ) multiple papulonodules on the extensor aspect of the left arm ( a ) multiple papulonodules distributed over the right side of chest , ( b ) multiple leiomyomas distributed over the trunk ( a ) histopathology shows eosinohillic smooth muscles arranged in interlacing and whorled pattern ( h and e , 40 ) , ( b ) histopathology showing red color stained smooth muscle fibers ( masson 's trichome , 40 )
leiomyoma , a rare benign tumor of smooth muscle derived from arrector pili muscle , media of blood vessels , smooth muscle of scrotum , labia majora , and nipples , can be of pilar , genital ( dartoic ) , and angioleiomyomic type .
pilar leiomyoma originating from the arrector pili is the most common type of cutaneous leiomyoma and usually occurs in early adult life .
it classically presents as a collection of pink , red or dusky brown firm nodules of varying size .
the gene that predisposes to multiple pilar leiomyomas has been mapped to chromosome 1q 42.3-q 43 .
multiple cutaneous leiomyomas , with inherited predisposition , are linked to uterine leiomyoma ( reed 's syndrome ) , and increased incidence of renal cell carcinoma .
type 1 reflects heterozygosity for the underlying mutation , with a clinical picture similar to that in a nonmosaic phenotype .
leads to homo- or hemizygosity , with a pronounced segmental manifestation of lesions in the affected segment .
though the exact molecular etiopathogenesis of multiple cutaneous leiomyomas is not known , recent studies have demonstrated the involvement of a classical tumor suppressor gene encoding fumarate hydratase , in the pathogenesis of multiple leiomyomas .
the lesions are often sensitive to touch , cold , emotional stress , or spontaneous pain .
it could be attributed to the local pressure exerted by the tumor on cutaneous nerves .
the excitation of these muscles occurs via the sympathetic nervous system resulting in contraction with the influx of calcium ions .
hence , nifedipine , a calcium channel blocker , has a role in relieving pain associated with cutaneous leiomyoma .
this case of familial cutaneous myomatosis et uteri is reported for its rare occurrence and is rarer for being segmental type 2 variety .
 reed 's syndrome or familial myomatosis cutis et uteri , an autosomal dominant inherited condition with incomplete penetrance , is characterized by multiple cutaneous and uterine leiomyomas.[1 ] uterine leiomyomas usually commence earlier compared to that in the general population and cutaneous leiomyomas may precede , follow or occur concurrently . 
 few patients may have associated renal cell carcinoma . 
 herein we report a case of a 50-year - old female with multiple , painful cutaneous leiomyomas and who had undergone hysterectomy owing to large uterine fibroids . 
 her 18-year - old daughter also has uterine fibroids . 
INTRODUCTION
CASE REPORT
DISCUSSION