Pseudoxanthoma elasticum history and symptoms: Difference between revisions
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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> | 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> | ||
===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]] examinations. This 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> | 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]] examinations. This 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== | ||
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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
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.[1] Small, yellowish papular lesions form and cutaneous laxity mainly affects the neck, 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).[2]
Ocular manifestations
PXE first affects the retina through a dimpling of the Bruch membrane (a thin membrane separating the blood vessel-rich layer from the pigmented layer of the retina), that is only visible during ophthalmologic examinations. This 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 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 hemorrhages that may lead to the loss of central vision. Vision loss is a major issue in many PXE patients.[2]
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 and myocardial infarction (heart attack).[2] Mitral valve prolapse has a higher prevalence in patients with PXE.[3] 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
- ↑ 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) - ↑ 2.0 2.1 2.2 Allen, P.; Wightman, F. (1992). "Spectral pattern discrimination by children". J Speech Hear Res. 35 (1): 222–33. PMID 1735972. Unknown parameter
|month=ignored (help) - ↑ Lebwohl, MG.; Distefano, D.; Prioleau, PG.; Uram, M.; Yannuzzi, LA.; Fleischmajer, R. (1982). "Pseudoxanthoma elasticum and mitral-valve prolapse". N Engl J Med. 307 (4): 228–31. doi:10.1056/NEJM198207223070406. PMID 7088072. Unknown parameter
|month=ignored (help)