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Child's Nervous System : ChNS :... Dec 2018Mongolian spots (MS) are grayish-blue macules that typically present in the lumbosacral and gluteal regions of newborns. They are mostly benign and tend to resolve with... (Review)
Review
PURPOSE
Mongolian spots (MS) are grayish-blue macules that typically present in the lumbosacral and gluteal regions of newborns. They are mostly benign and tend to resolve with age. This review brings to light recent findings and disorders associated MS.
METHODS
In this paper, we review the literature, highlight recent cases and disorders associated with MS, and emphasize how newborns presenting with atypical MS should undergo appropriate screening.
RESULTS
Atypical MS on other body parts are more likely to persist and might be an indication for further screening. Recent studies have shown persistent and extensive MS to be associated with various genetic disorders such as lysosomal storage diseases (LSDs) and phakomatosis pigmentovascularis.
CONCLUSION
Physicians should be aware of atypical MS and related conditions in order to further assess these patients for risk of any underlying genetic disorders.
Topics: Female; Humans; Infant, Newborn; Male; Mongolian Spot; Skin Neoplasms
PubMed: 30083796
DOI: 10.1007/s00381-018-3929-0 -
BMJ Case Reports Jul 2018
Topics: Brain; Humans; Infant; Lumbosacral Region; Magnetic Resonance Imaging; Male; Mongolian Spot; Sandhoff Disease
PubMed: 30061129
DOI: 10.1136/bcr-2018-225013 -
Child's Nervous System : ChNS :... Jan 2019Limited dorsal myeloschisis (LDM) is characterized by two invariable features: a focal closed neural tube defect and a fibroneural stalk linking the skin lesion to the...
PURPOSE
Limited dorsal myeloschisis (LDM) is characterized by two invariable features: a focal closed neural tube defect and a fibroneural stalk linking the skin lesion to the underlying spinal cord. Although detailed histopathological findings of the LDM stalk were originally described by Pang et al., the precise relationship between the histopathological findings and clinical manifestations including intraoperative findings has not been fully determined.
METHODS
We retrospectively analyzed the histopathological findings of the almost entire stalk and their relevance to the clinical manifestations in six Japanese LDM patients with flat skin lesions.
RESULTS
Glial fibrillary acidic protein (GFAP)-immunopositive neuroglial tissues were observed in three of the six patients. Unlike neuroglial tissues, peripheral nerve fibers were observed in every stalk. In four patients, dermal melanocytosis, "Mongolian spot," was seen surrounding the cigarette-burn lesion. In three of these four patients, numerous melanocytes were distributed linearly along the long axis of the LDM stalk, which might represent migration of melanocytes from trunk neural crest cells during formation of the LDM stalk.
CONCLUSION
Immunopositivity for GFAP in the LDM stalk was observed in as few as 50% of our patients, despite the relatively extensive histopathological examination. We confirm that the clinical diagnosis of LDM should be made based on comprehensive histopathological examination as well as clinical manifestations. The profuse network of peripheral nerve fibers in every stalk and the high incidence of melanocyte accumulation associated with dermal melanocytosis might assist the histopathological diagnosis of LDM.
Topics: Child, Preschool; Female; Glial Fibrillary Acidic Protein; Humans; Infant; Male; Melanocytes; Nerve Fibers; Neural Crest; Neurosurgical Procedures; Peripheral Nerves; Retrospective Studies; Skin Diseases; Spinal Cord
PubMed: 29934704
DOI: 10.1007/s00381-018-3870-2 -
Indian Journal of Dermatology,... 2018
Topics: Buttocks; Cafe-au-Lait Spots; Female; Humans; Infant; Mongolian Spot; Neurocutaneous Syndromes
PubMed: 29770784
DOI: 10.4103/ijdvl.IJDVL_383_17 -
The Journal of Pediatrics Jul 2018
Topics: Female; Gangliosidosis, GM1; Humans; Infant; Mongolian Spot; Skin Neoplasms
PubMed: 29681451
DOI: 10.1016/j.jpeds.2018.02.067 -
The Journal of Dermatology Oct 2018
Topics: Buttocks; Dermatofibrosarcoma; Diagnosis, Differential; Female; Humans; Hyperpigmentation; Melanocytes; Middle Aged; Mongolian Spot; Skin; Skin Neoplasms
PubMed: 29611228
DOI: 10.1111/1346-8138.14309 -
Archivos Argentinos de Pediatria Feb 2018Phakomatosis pigmentovascularis (PPV) is a syndrome characterized by the association of a vascular nevus with a congenital pigmented lesion (epidermal nevus, nevus...
Phakomatosis pigmentovascularis (PPV) is a syndrome characterized by the association of a vascular nevus with a congenital pigmented lesion (epidermal nevus, nevus spilus, and dermal melanocytosis). There are different types of PPV according to the pigmentary nevus associated with the vascular malformation. Patients may present only the cutaneous condition or have systemic manifestations, among them, trauma, neurological and ophthalmological disorders. We report the case of a 1-year-old girl who had congenital glaucoma. On examination, we identified facial paralysis, bilateral ocular melanosis, segmental capillary vascular malformation on the face as on left trunk and extremities, and aberrant Mongolian spots on the upper back, lumbosacral area and buttocks. Due to clinical manifestation, the diagnosis of PPV was made. The patient was evaluated by Neurology, Traumatology and keeps on with ophthalmological controls. Complementary studies are important, to rule out extracutaneous manifestations in PPV.
Topics: Female; Humans; Infant; Neurocutaneous Syndromes; Phenotype
PubMed: 29333836
DOI: 10.5546/aap.2018.e121 -
PloS One 2017Our previous 2005-2009 molecular epidemiological study in Mongolia identified a hot spot of HIV-1 transmission in men who have sex with men (MSM). To control the...
OBJECTIVE
Our previous 2005-2009 molecular epidemiological study in Mongolia identified a hot spot of HIV-1 transmission in men who have sex with men (MSM). To control the infection, we collaborated with NGOs to promote safer sex and HIV testing since mid-2010. In this study, we carried out the second molecular epidemiological survey between 2010 and 2016 to determine the status of HIV-1 infection in Mongolia.
METHODS
The study included 143 new cases of HIV-1 infection. Viral RNA was extracted from stocked plasma samples and sequenced for the pol and the env regions using the Sanger method. Near-full length sequencing using MiSeq was performed in 3 patients who were suspected to be infected with recombinant HIV-1. Phylogenetic analysis was performed using the neighbor-joining method and Bayesian Markov chain Monte Carlo method.
RESULTS
MSM was the main transmission route in the previous and current studies. However, heterosexual route showed a significant increase in recent years. Phylogenetic analysis documented three taxa; Mongolian B, Korean B, and CRF51_01B, though the former two were also observed in the previous study. CRF51_01B, which originated from Singapore and Malaysia, was confirmed by near-full length sequencing. Although these strains were mainly detected in MSM, they were also found in increasing numbers of heterosexual males and females. Bayesian phylogenetic analysis estimated transmission of CRF51_01B into Mongolia around early 2000s. An extended Bayesian skyline plot showed a rapid increase in the effective population size of Mongolian B cluster around 2004 and that of CRF51_01B cluster around 2011.
CONCLUSIONS
HIV-1 infection might expand to the general population in Mongolia. Our study documented a new cluster of HIV-1 transmission, enhancing our understanding of the epidemiological status of HIV-1 in Mongolia.
Topics: Female; HIV Infections; HIV-1; Homosexuality, Male; Humans; Male; Molecular Epidemiology; Mongolia; Phylogeny
PubMed: 29244859
DOI: 10.1371/journal.pone.0189605 -
Pathogens (Basel, Switzerland) Nov 2017Horses are critically important for Mongolian herders' livelihoods, providing transportation and food products, and playing important cultural roles. Equine influenza...
Horses are critically important for Mongolian herders' livelihoods, providing transportation and food products, and playing important cultural roles. Equine influenza virus (EIV) epizootics have been frequent among Mongolia's horses, with five occurring since 1970. We sought to estimate the prevalence for EIV infection among horses and Bactrian camels with influenza-like illness between national epizootics. In 2016-2017, active surveillance for EIV was periodically performed in four aimags (provinces). Nasal swabs were collected from 680 horses and 131 camels. Seven of the horse swabs were "positive" for qRT-PCR evidence of influenza A (Ct value ≤ 38). Two more were "suspect positive" (Ct value > 38 and ≤ 40). These nine specimens were collected from four aimags. None of the camel specimens had molecular evidence of infection. Despite serial blind passage in Madin-Darby Canine Kidney cells (MDCK) cells, none of the nine horse specimens yielded an influenza A virus. None of the 131 herder households surveyed had recently vaccinated their horses against EIV. It seems likely that sporadic EIV is enzootic in multiple Mongolian aimags. This finding, the infrequent use of EIV vaccination, periodic prevalence of highly pathogenic avian influenza, and the mixing of domestic and wild equid herds suggest that Mongolia may be a hot spot for novel EIV emergence.
PubMed: 29189713
DOI: 10.3390/pathogens6040061 -
Acta Dermato-venereologica Jan 2018
Topics: Asian People; Cafe-au-Lait Spots; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Japan; Male; Mongolian Spot; Neurofibromatosis 1; Skin; Skin Neoplasms; Skin Pigmentation
PubMed: 28902947
DOI: 10.2340/00015555-2796