Pseudoxanthoma elasticum history and symptoms: Difference between revisions

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==Overview==
==Overview==
The clinical manifestation of pseudoxanthoma elasticum usually starts with the skin.  Patients may present with features of gastrointestinal bleeding such as [[melena]], [[hematemesis]], frank bleeding or [[hematuria]]; cardiovascular manifestation such as [[angina]], [[intermittent claudication]], [[coronary heart disease]] or ocular symptoms such as loss of central vision.


==History and Symptoms==
==History and Symptoms==
===Cutaneous manifestations===
Usually, pseudoxanthoma elasticum affects the skin first, with the mean age of 13 years, which usually leads to the diagnosis.  The majority of patients with PXE are diagnosed at the age of 22 years, leading to a delay between the first manifestation and first diagnosis of approximately nine years.<ref name="Hacker-1993">{{Cite journal  | last1 = Hacker | first1 = SM. | last2 = Ramos-Caro | first2 = FA. | last3 = Beers | first3 = BB. | last4 = Flowers | first4 = FP. | title = Juvenile pseudoxanthoma elasticum: recognition and management. | journal = Pediatr Dermatol | volume = 10 | issue = 1 | pages = 19-25 | month = Mar | year = 1993 | doi =  | PMID = 8493160 }}</ref>
Usually, pseudoxanthoma elasticum affects the skin first, with the mean age of 13 years, which usually leads to the diagnosis.  The majority of patients with PXE are diagnosed at the age of 22 years, leading to a delay between the first manifestation and first diagnosis of approximately nine years.<ref name="Hacker-1993">{{Cite journal  | last1 = Hacker | first1 = SM. | last2 = Ramos-Caro | first2 = FA. | last3 = Beers | first3 = BB. | last4 = Flowers | first4 = FP. | title = Juvenile pseudoxanthoma elasticum: recognition and management. | journal = Pediatr Dermatol | volume = 10 | issue = 1 | pages = 19-25 | month = Mar | year = 1993 | doi =  | PMID = 8493160 }}</ref>
Small, yellowish papular lesions form and cutaneous laxity mainly affects the neck, [[Armpit|axillae]] (armpits), groin, and flexural creases (the inside parts of the elbows and knees). Skin may become lax and redundant. Many individuals have "oblique mental creases" (diagonal grooves of the chin).<ref name="Allen-1992">{{Cite journal  | last1 = Allen | first1 = P. | last2 = Wightman | first2 = F. | title = Spectral pattern discrimination by children. | journal = J Speech Hear Res | volume = 35 | issue = 1 | pages = 222-33 | month = Feb | year = 1992 | doi =  | PMID = 1735972 }}</ref>
Asymptomatic skin changes are usually at the lateral aspect the neck. Patients may also present with symptoms suggestive of gastrointestinal bleeding such as melena, hematemesis, frank bleeding or [[hematuria]].  As time progresses, patients experience more cutaneous manifestations and cardiovascular symptoms such as [[angina pectoris]], [[intermittent claudication]], and eventually [[coronary heart disease]].  [[Retinal hemorrhage]] leading to loss of central vision are usually common after the fourth decade.
 
===Ocular manifestations===
PXE first affects the retina through a dimpling of the [[Bruch's membrane|Bruch membrane]] (a thin membrane separating the blood vessel-rich layer from the pigmented layer of the [[retina]]), that is only visible during [[ophthalmologic]] examinationsThis is called [[peau d'orange]] (a French term meaning that the retina resembles the skin of an orange). Eventually the mineralization of the elastic fibers in the Bruch membrane create cracks ([[angioid streaks]]) that radiate out from the optic nerve. Angioid streaks themselves do not cause distortion of vision, even if they cross into the foveal area. This symptom is present almost all PXE patients and is usually noticed a few years after the onset of cutaneous [[wikt:lesion|lesions]]. These cracks may allow small blood vessels that were originally held back by Bruch's membrane to penetrate the retina. These blood vessels sometimes leak, and it's these retinal [[wikt:hemorrhage|hemorrhages]] that may lead to the loss of central vision. Vision loss is a major issue in many PXE patients.<ref name="Allen-1992">{{Cite journal  | last1 = Allen | first1 = P. | last2 = Wightman | first2 = F. | title = Spectral pattern discrimination by children. | journal = J Speech Hear Res | volume = 35 | issue = 1 | pages = 222-33 | month = Feb | year = 1992 | doi =  | PMID = 1735972 }}</ref>
 
===Cardiovascular manifestations===
This occurs as a result of the arterial involvement.  In the circulatory system, [[intermittent claudication]] (leg pain during walking which resolves at rest), which is usually a late presentation, is a prominent feature.  At later stages, [[coronary artery disease]] may develop, leading to [[angina pectoris|angina]] and [[myocardial infarction]] (heart attack).<ref name="Allen-1992">{{Cite journal  | last1 = Allen | first1 = P. | last2 = Wightman | first2 = F. | title = Spectral pattern discrimination by children. | journal = J Speech Hear Res | volume = 35 | issue = 1 | pages = 222-33 | month = Feb | year = 1992 | doi =  | PMID = 1735972 }}</ref>  Mitral valve prolapse has a higher prevalence in patients with PXE.<ref name="Lebwohl-1982">{{Cite journal  | last1 = Lebwohl | first1 = MG. | last2 = Distefano | first2 = D. | last3 = Prioleau | first3 = PG. | last4 = Uram | first4 = M. | last5 = Yannuzzi | first5 = LA. | last6 = Fleischmajer | first6 = R. | title = Pseudoxanthoma elasticum and mitral-valve prolapse. | journal = N Engl J Med | volume = 307 | issue = 4 | pages = 228-31 | month = Jul | year = 1982 | doi = 10.1056/NEJM198207223070406 | PMID = 7088072 }}</ref> In the digestive tract, the principal symptom is [[gastrointestinal bleeding]], usually from the [[stomach]].  About 10-15% of patients with PXE experience GI bleeding at some point in the life.


==References==
==References==

Latest revision as of 12:13, 20 August 2013

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S [2]

Overview

The clinical manifestation of pseudoxanthoma elasticum usually starts with the skin. Patients may present with features of gastrointestinal bleeding such as melena, hematemesis, frank bleeding or hematuria; cardiovascular manifestation such as angina, intermittent claudication, coronary heart disease or ocular symptoms such as loss of central vision.

History and Symptoms

Usually, pseudoxanthoma elasticum affects the skin first, with the mean age of 13 years, which usually leads to the diagnosis. The majority of patients with PXE are diagnosed at the age of 22 years, leading to a delay between the first manifestation and first diagnosis of approximately nine years.[1] Asymptomatic skin changes are usually at the lateral aspect the neck. Patients may also present with symptoms suggestive of gastrointestinal bleeding such as melena, hematemesis, frank bleeding or hematuria. As time progresses, patients experience more cutaneous manifestations and cardiovascular symptoms such as angina pectoris, intermittent claudication, and eventually coronary heart disease. Retinal hemorrhage leading to loss of central vision are usually common after the fourth decade.

References

  1. Hacker, SM.; Ramos-Caro, FA.; Beers, BB.; Flowers, FP. (1993). "Juvenile pseudoxanthoma elasticum: recognition and management". Pediatr Dermatol. 10 (1): 19–25. PMID 8493160. Unknown parameter |month= ignored (help)


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