China
Africa
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Skin and soft tissue
Published in Tor Wo Chiu, Stone’s Plastic Surgery Facts, 2018
Mongolian spot – macular pigmentation (a blue–grey patch up to 10 cm in diameter) present at birth on the sacral area of >90% of Mongoloid and ~1% of White neonates. Histologically, there are ribbon-like melanocytes around the neurovascular bundles of the dermis with a lack of melanophages. The pigmentation increases after birth but regresses by the age of 4–7 years, and no treatment is required. Some ‘persistent’ Mongolian spots may be larger and persist for longer.
The limbs and soft tissues
Published in Spencer W. Beasley, John Hutson, Mark Stringer, Sebastian K. King, Warwick J. Teague, Paediatric Surgical Diagnosis, 2018
Spencer W. Beasley, John Hutson, Mark Stringer, Sebastian K. King, Warwick J. Teague
An ephelis (‘freckle’) is a a small, light brown or tan mark on the skin, most often seen in individuals with light complexions. Cafe-au-lait spots are coffee-coloured skin patches. Many children have one or two, but if more than six have developed by the time the child is five years, then neurofibromatosis should be excluded. The Mongolian spot is a classic blue naevus. It is a flat blue/grey birthmark with diffuse margins most often found on the lower back, buttocks or limbs. Mongolian spots may last for months or years, but they usually disappear by the time a child reaches school age. They are harmless and do not need treatment.
Congenital nevi
Published in Prem Puri, Newborn Surgery, 2017
Lee W. T. Alkureishi, Bruce S. Bauer
Mongolian spots are blue-gray macules, usually overlying the lumbosacral area of otherwise healthy infants (Figure 86.4). They are more common in Asian and darker-skinned individuals. Mongolian spots are most often present at birth but may appear within the first weeks of life, and usually regress spontaneously by age 3–4 years of age. Lesions are made up of widely scattered dendritic melanocytes within the lower two-thirds of the dermis. No treatment of these benign lesions is necessary; however, laser can be effective for management of a persistent lesion.35
A prospective, split-face study comparing 1,064-nm picosecond Nd:YAG laser toning with 1,064-nm Q-switched Nd:YAG laser toning in the treatment of melasma
Published in Journal of Dermatological Treatment, 2022
Jun Ki Hong, Sun Hye Shin, Su Jung Park, Seong Jun Seo, Kui Young Park
In this study, we observed that both the 1,064-nm ps and 1,064-nm Qs Nd:YAG laser toning techniques with five sessions at 2-week intervals yielded noticeable outcomes in melasma lesions, but neither was superior in terms of effectiveness. The incidence of adverse events was not significantly different between the modalities. Theoretically, the ps laser shows greater efficacy in the treatment of ‘static’ benign pigmented lesions including tattoos, dermal melanocytosis (nevus of Ota/Ito and ectopic Mongolian spot), freckles, and solar lentigines (8,16,17). However, the effect of ps laser toning in melasma is controversial. This proves that melasma is not a simple pigmented lesion, but a disease with complex characteristics that actively changes through the interaction of multiple factors including UV irradiation, sex hormones, inflammatory cytokines, and genetic predisposition. Recently, UV-exposure-independent factors (such as H19 ribonucleic acid [RNA], Wnt inhibitory factor-1, and secreted frizzled-related protein 2), dermal factors (dermal resident cells, mast cells, and fibroblasts), and microRNAs have been proposed as significant relevant factors of skin pigmentation in melasma (1,2,18,19).
Neonatal outcomes and congenital anomalies in pregnancies affected by hypothyroidism
Published in Annals of Medicine, 2021
Zareen Kiran, Aisha Sheikh, Khadija Nuzhat Humayun, Najmul Islam
Most studies reported major congenital anomalies as a perinatal outcome of hypothyroid mothers but did not describe the details of the anomalies [18]. Among the significant congenital anomalies, our cohort had more cardiovascular defects (CVD) with highest prevalence of Patent Ductus Arteriosus (PDA) (1.2%) followed by Ventricular Septal Defect (VSD) (1.1%). Literature is limited regarding neonates of hypothyroid mothers without congenital hypothyroidism developing cardiovascular defects. A study from India reported higher CVD than other anomalies amongst congenital hypothyroid neonates [42], which is similar to a Mexican study with a larger sample size and with PDA as the second most common CVD [43]. Urogenital tract was the second clinically important organ system involved in our neonates. A study from Iran has reported significant association of presence of urogenital anomalies with congenital hypothyroidism (OR 2.04; 95%CI: 1.1–3.6; p ≤0.05) [38]. We also observed that births to women diagnosed during pregnancy are 2.3 times more likely to have a congenital anomaly or condition. We have no local data to compare this effect, however, this subject is also rarely explored in literature. One of our neonates also had Zellweger syndrome and the other had Edward syndrome, which have never been reported before. Although there are number of miscellaneous cutaneous (most common Mongolian spots) and musculoskeletal conditions present in our cohort of neonates, we need to identify their significance only after conducting a case–control study.
Safety and efficacy of idursulfase in the treatment of mucopolysaccharidosis II (Hunter syndrome): a post-marketing study in Japan
Published in Expert Opinion on Drug Safety, 2020
MPS II varies widely in the age of onset, symptom severity, and the rate of progression [6]. Features such as coarse facial features, hepatosplenomegaly, musculoskeletal symptoms, hearing loss, hernias, extensive Mongolian spots, and macrocephaly commonly present during the first years of life [6–9]. Approximately two-thirds of affected individuals suffer from the severe form of MPS II, with compromise of the cardiac, pulmonary and central nervous systems, resulting in premature death within the first or second decades of life [2,8,10]. However, patients with milder forms of the disease and minimal or no neurologic involvement have normal intelligence and may survive into adulthood [6,8].