Pseudoxanthoma elasticum history and symptoms: Difference between revisions
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==History and Symptoms== | ==History and Symptoms== | ||
Usually, pseudoxanthoma elasticum affects the skin first, | ===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> | |||
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> | |||
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> | ||
PXE may affect the gastrointestinal and cardiovascular systems. In the digestive tract, the principal symptom is [[gastrointestinal bleeding]], usually from the [[stomach]]. This occurs in very small number of patients. In the circulatory system, [[intermittent claudication]] (leg pain during walking which resolves at rest) is a prominent feature, although at later stages [[coronary artery disease]] may develop, leading to [[angina pectoris|angina]] and [[myocardial infarction]] (heart attack) may occur.<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 may affect the gastrointestinal and cardiovascular systems. In the digestive tract, the principal symptom is [[gastrointestinal bleeding]], usually from the [[stomach]]. This occurs in very small number of patients. In the circulatory system, [[intermittent claudication]] (leg pain during walking which resolves at rest) is a prominent feature, although at later stages [[coronary artery disease]] may develop, leading to [[angina pectoris|angina]] and [[myocardial infarction]] (heart attack) may occur.<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> | ||
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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] 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] PXE may affect the gastrointestinal and cardiovascular systems. In the digestive tract, the principal symptom is gastrointestinal bleeding, usually from the stomach. This occurs in very small number of patients. In the circulatory system, intermittent claudication (leg pain during walking which resolves at rest) is a prominent feature, although at later stages coronary artery disease may develop, leading to angina and myocardial infarction (heart attack) may occur.[2]
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)