The present case report describes this dermatosis in a 19-year old female patient with Down's syndrome, who presented with asymptomatic erythematous, keratotic papules in an arciform pattern, located on her right forearm and knee, which had been present [ncbi.nlm.nih.gov]

• Dental Caries

  Osteogenesis imperfecta patients may have a history of fractures, hearing loss and dental caries. Physical findings include short stature, basilar skull deformities, blue sclera, scoliosis and joint laxity. [dermatologyadvisor.com]

• Acrocyanosis

  […] osteogenesis imperfecta among others, as well as Down's syndrome; and 3) induced by D-penicillamine. 1 The association between EPS and Down's syndrome is unknown; however, factors present in this syndrome such as premature skin aging, joint hyperelasticity and acrocyanosis [scielo.br]

  […] associated with EPS include trisomy 21, Ehlers-Danlos syndrome, osteogenesis imperfecta, scleroderma, cutis laxa, Rothmund-Thomson syndrome, acrogeria, pseudoxanthoma elasticum, and Moya Moya disease.[6,7] Trisomy 21 patients demonstrate joint hyperlaxity, acrocyanosis [jcadonline.com]

• Localized Scleroderma

  scleroderma loiasis Macroepiphyseal Dysplasia, McAlister Coe Type MASS Syndrome mastocytosis Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities [rgd.mcw.edu]

• Fear

  The parents did not agree to cryotherapy in fear of scarring and also rejected topical therapy besides the use of 10% urea in ointment. [ncbi.nlm.nih.gov]

Progress logically from the histologic pattern, through the appropriate workup, around the pitfalls, to the best diagnosis. [books.google.de]

• Hypercholesterolemia

  The patient also had hypercholesterolemia, which was being treated with simvastatin 20 mg/day. [scielo.br]

The presentation lasted two years and was refractory to traditional medical treatment. [ncbi.nlm.nih.gov]

Treatment Options Treatment options are listed in Table I. A consistently effective treatment for EPS is not currently available. [dermatologyadvisor.com]

(Outcomes/Resolutions) The prognosis of Elastosis Perforans Serpiginosa depends upon the severity of the condition; mild cases (idiopathic and reactive forms) have better prognosis than severe ones It is also dependent upon the underlying health condition [dovemed.com]

PROGNOSIS, CLINICAL COURSE, AND TREATMENT The perforating disorders are difficult to treat. Their prognosis is tied to the underlying diseases, so treatment of the underlying cause can be effective. [dermaamin.com]

[…] and Martinez-Hernandez proposed the term “localized acquired cutaneous pseudoxanthoma elasticum,” as they believed that the process was “acquired” and was lacking “systemic involvement.” [18] Differentiating the above conditions is important as the prognosis [idoj.in]

Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]

The etiology, pathophysiology, natural history, and treatment options for DPA-induced EPS are reviewed, and the authors suggest this method of treatment to be effective and safe for patients of DPA-induced EPS refractory to conventional therapy. [ncbi.nlm.nih.gov]

There are three distinct etiologies of EPS: Idiopathic EPS - likely a genetic predisposition and the exact cause remains unknown. Approximately 60-70% of EPS cases fall in this category. [aocd.org]

HISTORY ETIOLOGY AND PATHOGENESIS D- penicillamine appears to be a clear trigger for EPS. [dermaamin.com]

Epidemiology Either idiopathic, drug induced (D-penicillamine), or associated with other inherited disorders (Down syndrome, Ehlers-Danlos syndrome, osteogenesis imperfecta, Marfan syndrome, Rothmund-Thomson syndrome) Diagrams / tables Images hosted on [pathologyoutlines.com]

[…] between EPS and Down's syndrome is unknown; however, factors present in this syndrome such as premature skin aging, joint hyperelasticity and acrocyanosis may suggest an underlying connective tissue disorder. 1,2 table 1 illustrates some clinical and epidemiological [scielo.br]

Epidemiology Frequency Elastosis perforans serpiginosa is a rare condition. No geographic preferences are apparent for elastosis perforans serpiginosa. Race No racial differences have been reported for elastosis perforans serpiginosa. [emedicine.medscape.com]

Epidemiology Frequency United States Isolated cases of erythema induratum have been reported in the United States. International While nodular vasculitis is quite common, particularly in Europe, erythema induratum is rare in Western countries. [infinitypath.com.au]

The etiology, pathophysiology, natural history, and treatment options for DPA-induced EPS are reviewed, and the authors suggest this method of treatment to be effective and safe for patients of DPA-induced EPS refractory to conventional therapy. [ncbi.nlm.nih.gov]

The pathophysiology of OI involves mutations in genes encoding α-chains of type I collagen, the main component of the dermis. [jhu.pure.elsevier.com]

The pathophysiology is not well understood. [renalfellow.blogspot.com]

Pseudoxanthoma elasticum: A clinical, pathophysiological and genetic update including 11 novelABCC6 mutations. J Med Genet 2005;42:881-92. 2. Neldner KH. Pseudoxanthoma elasticum. Clin Dermatol 1988;6:1-159. 3. [idoj.in]

Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates [icdlist.com]

Key words: Ehlers-Danlos syndrome, elastosis perforans serpiginosa Advertisement American Journal of Preventive Medicine and Public Health SUBMIT YOUR ARTICLE NOW [scopemed.org]

The patient should avoid sun exposure to prevent recurrence. elastosis perforans serpiginosa See: perforating disorder [medical-dictionary.thefreedictionary.com]

An early and lifelong therapy with chelators (penicillamine, trientine) or zinc is necessary to prevent disease evolution. [journals.lww.com]