Dermoscopy of pseudoxanthoma elasticum

Abstract

DescriptionA 22-year-old woman presented with complaints of gradually progressive yellowish asymptomatic papules coalescing to form plaques over the lateral aspects of the neck since last 3 years. There were no associated systemic complaints. No similar complaints were noted in any of the family members. Systemic examination was normal while mucocutaneous examination revealed the presence of symmetrically distributed yellowish monomorphic papules arranged in a linear and reticulate manner on both sides of the neck, axillae and periumbilical area (figure 1). These plaques were confluent at most of the places, occasionally studded with telangiectasias and had a pebble-like feel on palpation with poor elastic recoil. Polarised light dermoscopy at ×10 magnification of these plaques showed multiple irregular yellowish areas alternating with multiple linear vessels. These yellowish plaques coalesced to form parallel strands ( figure 2A). The fundus examination was within normal limits except diffuse pigmentary degeneration (figure 2B). The routine urine and stool examination revealed no occult blood, and echocardiography was normal. Histological evaluation of the plaque showed multiple fragmented, clumped, short, curled, basophilic elasticfibres in the mid-dermis in a ravelled ball appearance (figure 2C,D). 1 A final diagnosis of pseudoxanthoma elasticum (PXE) was made. Similar dermoscopic findings have been observed by Lacarrubba et al. 2 PXE is a rare hereditary disease affecting connective tissue and causing mineralisation of elastic fibres in the skin, eyes, cardiovascular system and digestive system with an incidence of 1 in 50 000 people. 3 We propose that dermoscopy could be a useful tool for a non-invasive prompt diagnosis of PXE for early detection and intervention.contributors All authors have contributed substantially and sufficiently to the data collection and completion of this article. AS: data collection and compilation (patient management and dermoscopy), writing and reporting the paper. NB: conception and conduct of the report, supervising and writing the paper. AB: data collection and writing the paper (ophthalmoscopy). Dermoscopy of pseudoxanthoma elasticum

Dermoscopic Patterns of Genodermatoses: A Comprehensive Analysis

“…Our systematic search provided a total of 471 articles; we identified 74 eligible studies by title, abstract, and full-text selection [23,24,26,27,30,, and 9 additional studies by citation searching [7,[109][110][111][112][113][114][115][116]. The selection process is summarized in Figure 18 (PRISMA).…”

“…It results in increased laxity and loss of elasticity of the skin, arterial insufficiency, and retinal hemorrhages. Dermatological examination reveals multiple coalescing soft yellowish papules with a cobblestone appearance that are symmetrically distributed on the neck, nape, and other flexural areas of the body (Figure 10) [26,27]. MNLIX is characterized by hair shaft dysplasia and fragility, resulting in hypotrichosis, especially in the occipital region, or alopecia of variable severity (Figure 9a).…”

“…It results in increased laxity and loss of elasticity of the skin, arterial insufficiency, and retinal hemorrhages. Dermatological examination reveals multiple coalescing soft yellowish papules with a cobblestone appearance that are symmetrically distributed on the neck, nape, and other flexural areas of the body (Figure 10) [26,27].…”

Dermoscopy of genodermatoses

“…Zu den dermatoskopischen Befunden gehören gelblich-weiße Kügelchen, die zu parallelen oder netzartigen Strängen auf einem leicht purpurroten Hintergrund und oberflächlichen linearen Gefäßen zusammenwachsen können (Abb. 5 b; [ 13 , 18 , 26 ]). Der purpurrote Hintergrund kann auf eine subklinische Entzündung hinweisen, die eine erhöhte mikrovaskuläre Perfusion verursacht.…”

“…Die dermatoskopische Erkennung von charakteristischen Hautmanifestationen kann die Diagnose bestimmter multisystemischer Erkrankungen erleichtern, darunter die ektopische Mineralisierungsstörung PXE und die lysosomale Speicherkrankheit Morbus Fabry. Bei diesen Erkrankungen kann eine frühzeitige Diagnose zu einer raschen Behandlung der Krankheit und zur Vermeidung von Komplikationen beitragen, da das Vorhandensein von Hautläsionen auf die Beteiligung anderer Organe hinweisen kann [ 4 , 12 , 13 , 18 , 26 ]. Es ist wichtig zu betonen, dass für die Diagnosestellung neben der dermatoskopischen Beurteilung auch der gesamte klinische Kontext des/der Patienten/Patientin berücksichtigt werden muss, einschließlich des Krankheitsbeginns, der Lokalisation der Hautläsionen, der Familienanamnese und der Ergebnisse der molekularen Tests [ 27 ].…”