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Anais Brasileiros de Dermatologia 2015Phacomatosis pigmentovascularis is a rare, congenital condition characterized by a combination of cutaneous melanocytic lesions and vascular malformation. We discuss an...
The case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis.
Phacomatosis pigmentovascularis is a rare, congenital condition characterized by a combination of cutaneous melanocytic lesions and vascular malformation. We discuss an entirely unique case of Phacomatosis pigmentovascularis with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita, which may represent a heretofore undescribed variant of phacomatosis pigmentovascularis.
Topics: Humans; Livedo Reticularis; Male; Mongolian Spot; Neurocutaneous Syndromes; Nevus of Ota; Port-Wine Stain; Skin Diseases, Vascular; Skin Neoplasms; Telangiectasis; Young Adult
PubMed: 26312661
DOI: 10.1590/abd1806-4841.20153466 -
International Journal of Neonatal... Jun 2021Congenital hypothyroidism (CH) is among the most common conditions leading to intellectual disability, which can be prevented by early detection through newborn...
Congenital hypothyroidism (CH) is among the most common conditions leading to intellectual disability, which can be prevented by early detection through newborn screening (NBS). In Mongolia, a regional screening program for CH was launched in 2000, which was supported by the International Atomic Energy Agency (IAEA) for the Asia Pacific Region. In our present study, a total of 23,002 newborns from nine districts in Ulaanbaatar were screened between 2012 and 2020, by the measurement of the thyroid-stimulating hormone (TSH) from dried blood spots, sampled 24 to 72 h after birth. The level of TSH was measured by the DELFIA assay. The overall CH prevalence confirmed at birth was 1/2091. The female-to-male ratio for CH cases was 1.8:1. The majority of patients were asymptomatic (72.7% of CH cases); umbilical hernia and cold or mottled skin were reported symptoms in patients with CH (27.3%). Thyroid dysgenesis (hypoplasia and agenesis) was the most common etiology, with a total of nine cases (81.8%) out of the eleven patients. The lapse between the birth date and the initiation of L-thyroxine treatment in CH-positive children was lower than 15 days in 63.64% of cases or 15 to 30 days in 36.36% of children. Further research is required to expand the screening coverage for CH in Mongolia.
PubMed: 34200138
DOI: 10.3390/ijns7020029 -
The Tohoku Journal of Experimental... Jun 1951
Topics: Humans; Melanins; Mongolian Spot; Nevus, Blue; Pigmentation; Skin Neoplasms
PubMed: 14884182
DOI: No ID Found -
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 -
Einstein (Sao Paulo, Brazil) Jun 2010To verify the incidence of skin diseases in newborns of pregnant women at risk of a public hospital in the city of Santos, Brazil (Hospital Guilherme Alvaro),...
OBJECTIVES
To verify the incidence of skin diseases in newborns of pregnant women at risk of a public hospital in the city of Santos, Brazil (Hospital Guilherme Alvaro), determining the potential relation between these dermatoses and diseases presented by the mothers.
METHODS
A total of 1,000 neonates were examined in the first 36 hours of life. The examination was repeated daily in each child up to hospital discharge. The paternal and newborn variables were submitted to analysis to detect statistically significant associations.
RESULTS
The most frequent skin disorders were: Mongolian spot (69.8%), erythema toxicum neonatorum (19.7%), Port-wine stain (angiomatous naevi) (13.9%), and hypertrichosis lanuginose (10.3%).
CONCLUSIONS
Minipuberty had a low incidence in neonates of diabetic mothers. The incidence of Mongolian spot was very low among newborns classified as caucasian.
PubMed: 26759994
DOI: 10.1590/S1679-45082010AO1504 -
Indian Journal of Dermatology,... 2011The neonatal period is generally regarded as the first 28 days of extrauterine life. Skin disorders are commonly seen in the neonatal period, most of which are transient... (Comparative Study)
Comparative Study
BACKGROUND
The neonatal period is generally regarded as the first 28 days of extrauterine life. Skin disorders are commonly seen in the neonatal period, most of which are transient and limited to the first days or weeks of life. In spite of being so frequent, these transient conditions usually escape dermatologist's observations, and consequently few have been studied.
AIMS
The study was designed to identify the dermatoses in the first 72 h of life; to report the relationship among the most common dermatoses with the newborn's features; and to verify how often dermatoses are reported by the neonatologist.
METHODS
The authors carried out a cross-sectional study on newborn's dermatoses in a brazilian public hospital, including 203 healthy neonates, until 72 h of age, with skin disorders.
RESULTS
Out of 34 different skin diagnosed conditions, hypertrichosis lanuginosa, Mongolian spot, sebaceous hyperplasia, epidermal hyperpigmentation, erythema toxicum, and salmon patch were the most frequent ones. The dermatoses with statistical significance were: Mongolian spot and epidermal hyperpigmentation with the non-white newborns; erythema toxicum and cutis marmorata with the white newborns; salmon patch with the female sex; physiologic desquamation with the cesarean section; acrocyanosis with the first pregnancy birth and Bohn's nodules with the vaginal delivery.
CONCLUSIONS
Thirty-four different types of dermatological alterations were identified in the healthy newborn within 3 days of life at the Maternity School of the Federal University of Rio de Janeiro. Underreporting of dermatoses with serious medical significance shows the importance of a dermatologist in the neonatal unit of a hospital.
Topics: Age Factors; Cross-Sectional Studies; Female; Health Surveys; Hospitals, Public; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Pregnancy; Skin Diseases
PubMed: 21727694
DOI: 10.4103/0378-6323.82403 -
The Journal of Investigative Dermatology Apr 2016Common birthmarks can be an indicator of underlying genetic disease but are often overlooked. Mongolian blue spots (dermal melanocytosis) are usually localized and...
Common birthmarks can be an indicator of underlying genetic disease but are often overlooked. Mongolian blue spots (dermal melanocytosis) are usually localized and transient, but they can be extensive, permanent, and associated with extracutaneous abnormalities. Co-occurrence with vascular birthmarks defines a subtype of phakomatosis pigmentovascularis, a group of syndromes associated with neurovascular, ophthalmological, overgrowth, and malignant complications. Here, we discover that extensive dermal melanocytosis and phakomatosis pigmentovascularis are associated with activating mutations in GNA11 and GNAQ, genes that encode Gα subunits of heterotrimeric G proteins. The mutations were detected at very low levels in affected tissues but were undetectable in the blood, indicating that these conditions are postzygotic mosaic disorders. In vitro expression of mutant GNA11(R183C) and GNA11(Q209L) in human cell lines demonstrated activation of the downstream p38 MAPK signaling pathway and the p38, JNK, and ERK pathways, respectively. Transgenic mosaic zebrafish models expressing mutant GNA11(R183C) under promoter mitfa developed extensive dermal melanocytosis recapitulating the human phenotype. Phakomatosis pigmentovascularis and extensive dermal melanocytosis are therefore diagnoses in the group of mosaic heterotrimeric G-protein disorders, joining McCune-Albright and Sturge-Weber syndromes. These findings will allow accurate clinical and molecular diagnosis of this subset of common birthmarks, thereby identifying infants at risk for serious complications, and provide novel therapeutic opportunities.
Topics: Alleles; Animals; Animals, Genetically Modified; Base Sequence; DNA Mutational Analysis; GTP-Binding Protein alpha Subunits; GTP-Binding Protein alpha Subunits, Gq-G11; HEK293 Cells; Humans; Infant; Molecular Sequence Data; Mongolian Spot; Mutation; Mutation, Missense; Neurocutaneous Syndromes; Phenotype; Phosphorylation; Signal Transduction; Skin Diseases; Zebrafish
PubMed: 26778290
DOI: 10.1016/j.jid.2015.11.027 -
BMJ Case Reports Jun 2012Phakomatosis pigmentovascularis (PPV) is a rare sporadic genetic disorder characterised by co-occurrence of an extensive vascular nevus and a large pigmentary nevus with...
Phakomatosis pigmentovascularis (PPV) is a rare sporadic genetic disorder characterised by co-occurrence of an extensive vascular nevus and a large pigmentary nevus with or without extracutaneous manifestations. There are four types of PPV with subtype 'a' for cutaneous involvement only and subtype 'b' for cutaneous and systemic involvement. PPV type IIa consists of nevus flammeus, Mongolian spots and sometimes nevus anemicus. Prognosis depends on associated systemic disorders. Two independent cases of PPV type IIb presented with nevus flammeus, aberrant Mongolian spots, ocular and central nervous system anomalies. Case 1 had external hydrocephalus previously unreported in PPV while case 2 had hydrocephalus exvacuo. Both patients had seizure disorder and neurodevelopmental delay. They were on long-term neurologic and ophthalmologic management while their cutaneous lesions partially regressed. PPV affects all racial and ethnic groups. The occurrence of external hydrocephalus in PPV expands the spectrum of its systemic manifestations.
Topics: Female; Humans; Hydrocephalus; Infant; Infant, Newborn; Male; Megalencephaly; Mongolian Spot; Neurocutaneous Syndromes; Pigmentation Disorders; Port-Wine Stain; Radiography; Seizures
PubMed: 22736785
DOI: 10.1136/bcr.12.2011.5432 -
Medicine Aug 2018Phacomatosis pigmentovascularis (PPV) is a rare syndrome characterized by capillary malformation and pigmentary nevus. Congenital chylous ascites (CCA) is also a rare...
RATIONALE
Phacomatosis pigmentovascularis (PPV) is a rare syndrome characterized by capillary malformation and pigmentary nevus. Congenital chylous ascites (CCA) is also a rare disease that results from maldevelopment of the lymphatic system. We report a case of a 5-month-old girl, who had both PPV and CCA.
PATIENT CONCERNS
A 5-month-old girl is reported, who presented extensive nevus flammeus and an aberrant Mongolian spot with congenital chylous ascites.
DIAGNOSES
The expression of extensive nevus flammeus and an aberrant Mongolian spot with congenital chylous ascites, that was diagnosed as type IIb phacomatosis pigmentovascularis.
INTERVENTIONS
Conservative treatment included administration of somatostatin, MCT-based diet or TPN with drainage of ascitic fluid. Surgery was taken into account after failed conservative treatments. Before surgery, it is necessary to locate the abnormal lymphatic vessels.
OUTCOMES
Conservative treatment and surgery sometimes functioned limitedly on CCA.
LESSONS
According to the classification system of ISSVA (the International Society for the Study of Vascular Anomalies), this case meet the classification of CLM included in combined vascular malformations. It is likely to there is a connection between these two congenital diseases.
Topics: Chylous Ascites; Female; Humans; Infant; Mongolian Spot; Neurocutaneous Syndromes; Skin Neoplasms
PubMed: 30142845
DOI: 10.1097/MD.0000000000012012 -
Children (Basel, Switzerland) Dec 2023Congenital dermal melanocytosis (DM) represents a common birthmark mainly found in children of Asian and darker skin phototype descent, clinically characterized by an...
Congenital dermal melanocytosis (DM) represents a common birthmark mainly found in children of Asian and darker skin phototype descent, clinically characterized by an oval blue-grey macule or macules, commonly located on the lumbosacral area. In rare DM cases, when presenting with diffuse macules persisting during the first years of life, it could represent a cutaneous feature of mucopolysaccharidoses (MPS). Extensive congenital DM is actually associated with Hurler syndrome (MPS type I) and Hunter syndrome (MPS type II), although several reports also described this association with MPS type VI and other lysosomal storage disorders (LySD), including GM1 gangliosidosis, mucolipidosis, Sandhoff disease, and Niemann-Pick disease. Here, we present the case of a two-year-old boy presenting with extensive dermal melanocytosis, generalized hypertrichosis, and chronic itch, harboring a heterozygous variant of uncertain significance, NM_152419.3: c.493C>T (p.Pro165Ser), in the exon 4 of gene, whose mutations are classically associated with MPS IIIC, also known as Sanfilippo syndrome. This is the first report that highlights the association between extensive congenital DM and MPS type IIIC, as well as a pathogenetic link between heterozygous LySD carrier status and congenital DM. We speculate that some cases of extensive congenital DM could be related to heterozygous LySD carriers, as a manifestation of a mild clinical phenotype.
PubMed: 38136122
DOI: 10.3390/children10121920