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Disorders of bone and connective tissue
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Most cases of pseudoxanthoma elasticum follow autosomal recessive inheritance, but a few apparently dominant families have been described, mostly with milder clinical features. Asymptomatic individuals may be detected by the presence of angioid streaks in the retina. Most cases are caused by homozygous or compound heterozygous mutations in ABCC6, leading to calcification of elastic fibres in skin, the arterial wall and the retina; the apparently dominant families mostly represent examples of pseudo-dominant inheritance.
Medical retina
Published in Mostafa Khalil, Omar Kouli, The Duke Elder Exam of Ophthalmology, 2019
Pseudoxanthoma elasticum: Most common systemic association. Mutation in the ABCC6 gene. Presents with yellow papular lesions with excessive wrinkling (‘plucked chicken’ appearance) of skin usually in the neck, inguinal folds and antecubital fossa.
Vascular Disorders
Published in Genesio Murano, Rodger L. Bick, Basic Concepts of Hemostasis and Thrombosis, 2019
Pseudoxanthoma elasticum (PE syndrome), unlike the other hereditary collagen vascular diseases, often does not become manifest until the second or third decade in life.8 This rare disorder is inherited as an autosomal recessive trait. It is commonly characterized by significant hemorrhage, since abnormal elastic fibers affect the entire arterial system. Hemorrhage can occur in any organ, most commonly skin, eyes, kidneys, and gastrointestinal tract. In addition, these patients have a marked tendency to easy and spontaneous bruisability and commonly develop petechiae and purpura. Clinical characteristics include relaxed, inelastic, and redundant skin in facial, neck, axillary, orbital, and inguinal areas. Hyperkeratotic plaques develop in these areas, and subcutaneous calcinosis is also common. Death is commonly caused by gastrointestinal hemorrhage. Excessive uterine bleeding and intra-articular bleeds with formation of hemarthroses are common. The basic pathology of this disorder is poorly understood.
An unusual presentation of eruptive syringomas on the neck
Published in Baylor University Medical Center Proceedings, 2021
Madeline R. Frizzell, Saadeddine S. Saad, Katherine H. Fiala
Given the location of the lesions on the anterolateral neck, the age of the patient, and coalescing appearance of the papules, concern for pseudoxanthoma elasticum (PXE) was raised. PXE is a rare, autosomal recessive disease caused by the loss of a protein that regulates mineralization of connective tissue.1 Calcification of elastic fibers results in multiorgan manifestations, most commonly involving the skin, arteries, and retina.1 The first presenting sign is usually an area of yellow-tan papules or plaques located on flexural areas, most commonly the lateral neck.1 The papules on our patient looked to be considerably denser in some areas, resembling the plaque-like formation of PXE; however, there have been reports of eruptive syringomas progressing into plaques.2
Pseudoxanthoma elasticum and retinitis pigmentosa: dual diagnosis of recessive conditions with ophthalmological consequences
Published in Ophthalmic Genetics, 2020
Disha Katiyar, Peter Davies, Himanshu Goel
Pseudoxanthoma elasticum (PXE) is an autosomal recessive connective tissue disease with variable systemic manifestations that are a result of mineralisation and fragmentation of elastic fibres (1). The prevalence of PXE is estimated to be between 1:25 000 and 1:100 000 (2). Pathogenic mutations in ABCC6 (OMIM 603234) are associated with PXE. ABCC6 (Chr16p13.1) encodes for multidrug resistance protein six (MRP6) which is a part of the ATP-binding cassette family (2). The highest level of ABCC6 expression is in the liver and kidney cell membranes; for this reason, it is theorised that PXE is a metabolic disease caused by abnormal levels of molecules which play a role in the synthesis of the extracellular matrix (1). Since connective tissue is present throughout the body, the disease manifests with skin, eye and cardiovascular features.
Reticular pseudodrusen: current understanding
Published in Clinical and Experimental Optometry, 2019
Antony J Wightman, Robyn H Guymer
RPD have also been described in Sorsby's fundus dystrophy, a condition characterised by mutations in the tissue inhibitor of metalloproteinases‐3 gene involved in extracellular matrix remodelling, causing central vision loss secondary to subretinal neovascularisation and atrophy of the choriocappilaris and retinal pigment epithelium.2015 Individuals with pseudoxanthoma elasticum, an inherited condition characterised by the systemic mineralisation and fragmentation of elastic fibres in Bruch's membrane with neovascular complications, have also been shown to develop RPD.2015 In contrast to AMD, RPD were less common in older individuals with Sorsby's fundus dystrophy or pseudoxanthoma elasticum, which is speculated to be due to either reduced detectability or disappearance of RPD following the development of chorioretinal atrophy or secondary to choroidal neovascularisation and resultant scarring, a phenomenon also described in AMD.2009