elastosis perforans serpiginosa ( eps ) , characterized by transepidermal elimination of fragmented elastic fibres , clinically presents as hyperkeratotic papules .
it 's rare association with pseudoxanthoma elasticum ( pxe ) has been documented in the literature .
we report a case of pxe with associated lesions that were histopathologically compatible with eps .
pxe is due to the mutations in the mrp6/abcc6 gene , which is a member of the atp - binding cassette ( abc ) family and acts as a transmembrane transporter primarily in the liver and the kidney , primary defect of which results in the accumulation of certain metabolic compounds with secondary calcification of elastic fibers .
we also highlight the importance of the clinical finding of an exaggerated mental crease , which has been shown to be a sensitive and highly specific finding in patients under the age of 30 years with pxe .
a 22-year - old female , third of four siblings born of first - degree consanguinity presented with a three - year history of excess folds of the skin on the sides of the neck and a six months history of asymptomatic eruption on the neck .
there was no history of intermittent claudication , chest pain , seizures , or melena .
physical examination revealed numerous small yellow brown non follicular papules about 12 mm in size arranged in a linear fashion on the sides of the neck .
skin of the neck was soft , lax and was hanging in folds on the sides of neck and in both the axillae [ figures 1 and 2 ] .
a few brown to black distinctive hyperkeratotic nonfollicular papules about 5 mm in diameter arranged in a serpiginous fashion with a central plug , revealing a crateriform pit on dislodgment were seen on the sides of the neck [ figure 3 ] .
electrocardiogram ( ecg ) , 2d echo , and radiography of the chest were normal .
the ophthalmologic examination revealed the presence of angioid streaks in the fundus , which were clinically asymptomatic [ figure 5 ] .
lax skin demonstrated on the sides of neck lax skin hanging in folds in both the axillae hyperkeratotic nonfollicular papules and atrophic scars arranged in a serpiginous seen on the sides of the neck a single prominent mental crease angioid streaks in the fundus demonstrated on ophthalmoscopy histopathology of the biopsy specimen from a hyperkeratotic papule revealed hyperplastic epidermis .
there were numerous fragmented , stringy , and curled elastic fibers giving the appearance of revealed wool in the upper- and mid - reticular dermis [ figure 6 ] .
special staining with von kossa stain revealed calcification of the elastic fibers in the reticular dermis and in the disrupted follicular infundibular wall . with the above clinical and histopathological evidence , we diagnosed the case as pxe with associated eps .
histopathology revealing numerous fragmented , stringy , and curled elastic fibers giving the appearance of raveled wool in the upper- and mid - reticular dermis [ h and e , 10 ] higher magnification revealing disrupted follicle surrounded by foreign body 
type granulomatous inflammation with several foreign body giant cells and neutrophils with small fragments of elastic fibers in the infundibular wall [ h and e , 40 ]
pxe ( mim 264800 ) , also known as systematized elastorrhexis or gronblad  strandberg syndrome is an autosomal recessive disease of the connective tissue , which primarily affects the dermis , retina , and the cardiovascular system . the prevalence is currently estimated to be 1 in 25,000 - 70,000 live births .
the diagnosis of pxe is most often made late in the second or third decade of life .
genetic studies have identified mutations in the mrp6/abcc6 gene on chromosome 16p13.1 , which is a member of the abc family and acts as a transmembrane transporter primarily in the liver and the kidney , primary defect of which results in the accumulation of certain metabolic compounds with secondary calcification of elastic fibers .
characteristic skin lesions include yellow papules in a linear or reticulate pattern with soft , lax , wrinkled skin hanging in folds by the sides of the neck , below the clavicles , the axillae , abdomen , groins , perineum , and thighs described as 
eye involvement results from breaks in bruch 's membrane at the posterior aspect of the retina ( angioid streaks ) , which is symptomless but may be complicated by retinal neovessels , recurrent hemorrhage , disciform scarring , and eventual loss of central vision .
most of the cardiovascular manifestations are related to early arteriosclerosis as a consequence of degenerated elastic laminae , which manifest as disappearance of peripheral pulses , intermittent claudication , angina pectoris , rarely myocardial infarction , cerebral stroke , and visceral hemorrhage .
early diagnosis is important if the ocular and cardiovascular complications are to be prevented . to facilitate and unify the clinical diagnosis for pxe , three major diagnostic criteria ( characteristic yellow skin lesions in flexural sites , elastic fiber calcification in lesional skin , and ocular disease ) and two minor criteria
( histopathologic features in nonlesional skin and family history of pxe in a first - degree relative ) have been adopted .
the presence of exaggerated mental crease has been shown to be asensitive and highly specific finding in patients under the age of 30 years with pxe .
it may be the result of deterioration of elastic tissue in the lip and chin , or blood vessels supplying the jaw .
the clinical finding of a horizontal chin crease in the presence of central loss of vision , arterial occlusive disease , or acute gastrointestinal hemorrhage should prompt the physicians to examine their patients for other features of pxe .
a rare association of pxe with eps such as lesions characterized by spontaneous perforating lesions with transepidermal elimination of fragmented elastic fibers , clinically presenting as hyperkeratotic papules has been reported .
eps is classified into three types : ( 1 ) idiopathic ; ( 2 ) reactive , associated in 25% of cases with connective tissue diseases ; ( 3 ) induced by d - penicillamine .
confusion exists whether these perforating lesions should be considered as eps associated with pxe or simply as perforating pxe .
the first group includes patients previously diagnosed with generalized hereditary pxe , who in the course of their disease progression develop clinical lesions that are histopathologically indistinguishable from eps .
the second group is characterized by transepidermal elimination of altered elastic fibers occurring in a localized , acquired form of pxe usually in the periumbilical region , who do not develop other ocular , vascular , and visceral manifestations of hereditary pxe .
the term periumbilical perforating pxe was first proposed by hicks et al . , in 1979 , for the second entity .
localized acquired cutaneous pseudoxanthoma elasticum ,  as they believed that the process was  acquired  and was lacking
 differentiating the above conditions is important as the prognosis differs and a close follow up is needed in the hereditary form of pxe to rule out the systemic involvement .
we categorize our patient into the hereditary form with systemic involvement such as angioid streaks and having associated eps lesions .
we also highlight the importance of prominent mental crease , which when identified in an individual less than 30 years should prompt a search for pxe , which is often diagnosed as in our patient .
 elastosis perforans serpiginosa ( eps ) , characterized by transepidermal elimination of fragmented elastic fibers , clinically presents as hyperkeratotic papules . 
 eps is classified into three types : ( 1 ) idiopathic ; ( 2 ) reactive , with associated connective tissue diseases such as pseudoxanthoma elasticum ( pxe ) , ehlers  danlos syndrome , cutis laxa , marfan syndrome , osteogenesis imperfecta , down 's syndrome ; ( 3 ) the one that is induced by d - penicillamine . 
 a rare association of eps with pxe , which is primarily a defect of transmembrane transporter protein with accumulation of certain metabolic compounds and secondary calcification of elastic fibers has been documented in the literature . 
 we report a case of pxe with associated lesions that were histopathologically compatible with eps . 
INTRODUCTION
CASE REPORT
DISCUSSION
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