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Prenatal Diagnosis and Screening for Aneuploidy
Published in Vincenzo Berghella, Obstetric Evidence Based Guidelines, 2022
Sarah Harris, Angie Jelin, Neeta Vora
Approximately 95% of concept uses with trisomy 18 die in embryonic or fetal life. Five to ten percent of affected children born alive survive beyond the first year of life. In utero, there are decreased fetal movements. Clinical findings the parents should be informed about include severe psychomotor and growth delay, microcephaly, microphthalmia, malformed ears, micrognathia or retrognathia, microstomia, distinctively clenched fingers, rocker-bottom feet, and other congenital malformations. CHD occurs in 90%, with ventricular septal defect (VSD) and polyvalvular heart disease (pulmonary and aortic valve defects) common. Renal anomalies and GI and brain malformations are common. Classical dermatoglyphics with digital arch patterns on finger and toe tips and distal palmar triradius with hypoplastic finger tips and small nails. Central apnea is a frequent cause of death, along with cardiac, CNS, and renal malformations [62].
Photodamaged and aged skin
Published in Giuseppe Micali, Francesco Lacarrubba, Dermatoscopy in Clinical Practice, 2018
Anne-Sophie Brillouet, Michael D. Southall
Dermatoscopy can be useful for examining dermatoglyphics in different skin sites across the body to investigate the appearance of glyphics. A dermatoscopic examination of regional skin sites from a single individual clearly shows differences in the appearance of skin glyphics (Figure 32.2). Skin regions that would be considered photoprotected, such as the upper leg (thigh) and abdomen, show distinct glyphic patterns with polygonal forms forming the expected plateaus and furrows across the skin surface. In the same individual, regions of skin that would be expected to be exposed to some sun exposure, such as the upper dorsal arm and dorsal hand, present with less distinct polygonal forms and less defined plateaus and furrows. In contrast, photoexposed regions of skin, such as the cheek and lower outer leg, clearly show a loss of dermatoglyphic patterns of the skin; the primary lines of the polygonal forms appear deeper and wider, and the secondary lines appear flatter and may even disappear from the skin. In regions of the skin that may receive the most sun exposure, such as the cheeks, the glyphics are absent.
Nonmelanocytic Lesions
Published in Ashfaq A Marghoob, Ralph Braun, Natalia Jaimes, Atlas of Dermoscopy, 2023
Sarah N. Hocker, Harold S. Rabinovitz, Margaret C. Oliviero, Ashfaq A. Marghoob
The key dermoscopic features of solar lentigines are as follows (Figure 6e.5):Moth-eaten border: The presence of a sharply demarcated and irregularly curved border is characteristic of solar lentigines. Often, portions of the border are scalloped, giving a moth-eaten appearance (Figures 6e.1 and 6e.3) [12,1,17].Homogeneous light brown pigmentation: Many lesions have no structures or networks, only containing light brown and structureless areas (Figure 6e.6). The term “jelly sign” has been proposed to describe the pigment quality of these lesions (Figure 6e.7); the pigment appears as if jelly had been smeared on the skin surface [11,13] (Figure 6e.8).Pigment network: There may be an area of faint reticulation (Figures 6e.1 and 6e.3). This correlates with the presence of melanocytes and melanin-filled keratinocytes in the rete ridges [21].Fingerprint-like areas: They are areas consisting of fine parallel running lines of light brown to dark brown colors. They resemble the dermatoglyphics of a human fingerprint (Figures 6e.1 and 6e.9) [10,17].Pseudonetwork: Lentigines located on the scalp and face share features of pigmented melanocytic lesions in this special location (see Chapter 11a for further information) revealing a pseudonetwork pattern. This is created when a diffusely pigmented area is interrupted by nonpigmented adnexal openings (Figure 6e.10) [8,17].Symmetric follicular pigmentation: In a solar lentigo, the pigment around hair follicles is distributed in a symmetric fashion, creating small brown circles (Figure 6e.11). The pigment is usually light brown in color and similar to the color of the rest of the lesion. While the pigment is usually distributed symmetrically around the follicle, some follicles may appear asymmetrically pigmented. These asymmetrically pigmented follicles appear as brown crescent-shaped structures. However, these asymmetric follicles will also have a brown color similar to the rest of the lesion. If the color of the pigment around the follicle, whether symmetric or asymmetric, is of a grayish hue or differs from the rest of the lesion, then melanoma needs to enter the differential diagnosis.
Sex differences in frequencies of dermatoglyphic patterns by individual fingers
Published in Annals of Human Biology, 2019
Miroslav Králík, Lenka Polcerová, Martin Čuta
Preliminary searching for the keyword ‘dermatoglyphics’ (January 4th, 2018) using the portal Science Direct found 1970 relevant results. Accessible resources were limited mainly to the last 30 or 40 years, while the majority of those published before the year 1990 and earlier, in the ‘pre-electronic era’, were difficult to reach. Prior to the year 1990, two dermatoglyphic bibliographies by Mavalwala (1977) and Figueiras (1993) included 3496 and 2296 dermatoglyphic publications, respectively. Since dermatoglyphics developed and boomed for more than a century, the majority of substantial results were not available by simply searching in present-day full-text electronic portals. This is true to an even greater extent for papers written in non-English languages and so called grey literature. Therefore, as a primary source of material we used the Archive of our institution where many dermatoglyphic papers in printed version and separate printouts were available from collections and mail exchange of our esteemed professors. In parallel, we also searched for the key word ‘dermatoglyphics’ in full-text scientific portals—Wiley Online Library, NCBI, JSTOR, and Research Gate. We continually built the source database, adding new resources and checking them for selection criteria (see below) appropriate for our meta-analysis.