Mongolian spots--a prospective study.

To determine the frequency and clinical presentation of Mongolian spots (MS) and assess their evolution with age, this study was conducted in three phases. The first phase examined 2,313 babies born at Jawaharlal Institute of Postgraduate Medical Education and Research between October and December 2010 for the number, size, shape, color, and distribution of MS. Babies with MS were followed up at 6 months and 1 year, in the second and third phases, respectively, to note the evolution of the patches. Of 2,313 babies, 1,524 (65.9%) had MS. The majority had a single patch (n = 790), measuring less than 5 cm (n = 932), with an irregular shape (n = 981) and a blue-green color (n = 577). The most common site was sacral (n = 1,203), and the most common extrasacral site was a lower extremity (n = 156). A single case of superimposed MS was recorded. Male sex and prematurity were significantly associated with MS (p < 0.05). At 6 months, 73 of 634 babies (11.5%) showed fading and 83 (13.1%) showed complete disappearance. At 1 year, 90 (14.2%) showed fading and 268 (42.3%) showed complete disappearance. Multiple MS (p < 0.05), extrasacral position (p < 0.05), size larger than 10 cm (p < 0.05), and dark-colored lesions (blue/blue-black) (p < 0.05) were significantly associated with persistence beyond 1 year. Seven hundred ninety babies (51.8%) had a single MS. More than 40% of MS disappeared by 1 year. Multiple patches, extrasacral position, size larger than 10 cm, and dark-colored lesions were markers of persistence beyond 1 year.

Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis.

BACKGROUND: This paper aims to report GLB1 activities and mutation analysis of three patients from the mainland of China, one with Morquio B disease and two with GM1 gangliosidosis. METHODS: GLB1 activity and GLB1 gene mutation were analyzed in the three patients who were clinically suspected of having Morquio B disease or GM1 gangliosidosis. Novel mutations were analyzed by aligning GLB1 homologs, 100 control chromosomes, and the PolyPhen-2 tool. RESULTS: The enzymatic activity of GLB1 was found to be 5.03, 4.20, and 4.50 nmol/h/mg in the three patients, respectively. Patient 1 was a compound heterozygote for p.[Arg148Cys] and p.[Tyr485Cys] mutations in the GLB1 gene. Patient 2 was a compound heterozygote for p.[Tyr270Phe] and p.[Leu337Pro] mutations. Patient 3 was a homozygote for p.[Asp448Val] mutation. Three mutations (p.[Tyr485Cys], p.[Tyr270Phe] and p.[Leu337Pro]) were novel variants and were predicted to damage GLB1 function. CONCLUSIONS: The enzymatic activity and related gene analysis of ß-galactosidase should be performed in clinically suspected individuals to confirm diagnosis. The three novel mutations, p.[Tyr485Cys], p.[Tyr270Phe], and p.[Leu337Pro], are thought to be disease-causing mutations.

[Prevalence of birthmarks and transient skin lesions in 1,000 Spanish newborns]. / Prevalencia de marcas de nacimiento y lesiones cutáneas transitorias en 1.000 recién nacidos españoles.

BACKGROUND AND OBJECTIVES: Almost all newborn children have some sort of birthmark or transient benign skin lesion. Few studies, however, have analyzed their frequency, particularly in Spain. The aims of this study were to determine their prevalence in 1000 newborn children in the health care area of Ferrol in northwest Spain and to compare the results with those of 9 other studies with similar characteristics. PATIENTS AND METHODS: We undertook a descriptive study of 1000 newborn infants seen in the first 3 days of life at the neonatal clinic in the Department of Pediatrics, Hospital Arquitecto Marcide, Ferrol, Spain. Each infant was examined for the presence of 19 different transient benign skin lesions and 11 birthmarks. RESULTS: Birthmarks or benign skin lesions were present in 994 neonates (99.4%). Transient skin lesions were present in 99.2% and birthmarks in 72%. The 5 most prevalent lesions were sebaceous hyperplasia (75%), salmon patch (64.2%), hypertrichosis (59%), sucking calluses (54%), and palatine cysts (53.7%). CONCLUSIONS: The results of this study show that most neonates have benign skin lesions. The findings of studies to assess their frequency are influenced not only by geographic location (affecting variables such as climate, social and health care conditions, and ethnic group) but also by the timing of examination, the inclusion criteria applied, and the terminology used.

Mucocutaneous disorders in children with down syndrome: case-controlled study.

OBJECTIVE: Down's syndrome is the most frequent chromosomal anomaly that can affect a multiple organ systems, including skin. In this study, we compared the frequency of mucocutaneous disorders in children with Down's syndrome with normal children. METHODS: We recruited fifty children with Down's syndrome and 50 healthy children as a control in our study. Mucocutaneous abnormalities were examined in both groups. FUNDINGS: Of 50 patients, 22 were girls and 28 were boys. The skin findings such as xerosis and Mongolian spots were the most frequently seen in the patients with Down's syndrome. Seborrheic dermatitis, cheilitis and fissured tongue were seen frequently, as well. The rare findings were plantar hyperkeratosis, alopecia areata, geographic tongue, café-au-lait macula, livedo reticularis, cutaneous infections, pityriasis capitis simplex, cutis marmorata, neurotic excoriation, trichotillomania, keratosis pilaris and diaper dermatitis. No mucocutaneous finding was seen in 16 patients. The prevalence of the skin disorders including Mongolian spot, seborrheic dermatitis, cheilitis, fissured tongue was significantly higher in patients with Down syndrome than normal individuals (p<0.05). CONCLUSION: Therefore, large-scaled epidemiological studies covering the entire population are needed. We believe that these studies could provide better understanding the dermatological diseases in children with Down's syndrome that would help to practitioners to treat these problems.

Incidence of Mongolian spots and its common sites at two university hospitals in Tehran, Iran.

A total of 2,305 consecutive newborns at Shariati Hospital, Tehran, Iran, and 1,706 at Lolagar Hospital, Tehran, Iran, were examined for 2 years (2004-2006). Mongolian spots were found in 11.4% and 37.3% of newborns at Shariati and Lolagar hospitals, respectively. The most frequent site of involvement is the sacral, followed by the gluteal area.

Survey of common cutaneous lesions in healthy infants at the well baby clinic.

OBJECTIVE: Survey the prevalence of cutaneous disorders in infants at the well baby clinic. MATERIAL AND METHOD: This prospective study was conducted on 500 infants, aged between 1 month and 1-year-old. RESULTS: Mongolian spot and nevus simplex were the two most common congenital lesions in the present study. Seborrheic dermatitis was the most frequent skin findings arisen in infancy (apart from the neonatal period) and was on the third rank in overall cutaneous lesions. CONCLUSION: Skin infections especially tinea versicolor were easily missed.

A birthmark survey in 500 newborns: clinical observation in two northern Taiwan medical center nurseries.

BACKGROUND: The prevalence of birthmarks in Taiwanese newborns has not been well studied. How gender and maturity of newborns affect presentation and prevalence of vascular birthmarks, in particular, has not been well documented. The aim of this survey was to catalog the above-mentioned problems. METHODS: From May 9 through July 14, 2000, 500 newborns in Linkou and Taipei Chang Gung Memorial Hospital nurseries were examined for the presence of birthmarks. The data were collected and stored in Excel software and analyzed using chi2-test and Fisher's exact test for statistical association. RESULTS: The most common pigmentary birthmark was the Mongolian spot (61.6%), followed by congenital melanocytic nevi (0.6%), café-au-lait spots (0.4%), and nevi depigmentosus (0.4%). Vascular birthmark frequency was: salmon patch (27.8%), Port-Wine stain (0.6%), and hemangioma (0.2%). Other miscellaneous changes included preauricular sinus (0.6%), skin tag (0.6%), and accessory auricle (0.2%). Prevalence of the vascular salmon patch birthmarks in female infants and male infants was 31.0% and 26.6%, respectively, but the difference was not statistically significant (p = 0.51). The prevalence of vascular salmon patch birthmarks in full-term infants was 28.0%, and 25.8% in preterm infants. However, there was also no statistical difference (p = 0.96) between the two. The two nevus depigmentosus cases were isolated types and neither of these were distributed along the Blaschko lines. CONCLUSIONS: The Mongolian spot was the most common birthmark in Taiwanese newborns, followed by the salmon patch. All of the other birthmarks had prevalence of less than 1%. The prevalence of vascular salmon patch birthmarks was noted in 31.0% of female infants and in 26.6% of male infants. The prevalence of vascular salmon patch birthmarks in full-term infants was 28.0% versus 25.8% in preterm infants. However, the findings regarding vascular birthmarks were not statistically significant between the differing gender and maturity groups.

Frequency and characteristics of mongolian spots among Turkish children in Aegean region.

Mongolian spots, which are benign congenital lesions observed in the first years of life, can cause distress for parents due to aberrant localization as well as unexpected number and size. Therefore, efficient differential diagnosis is necessary. The aim of this study was to determine the frequency and characteristics of mongolian spots in 1-12-month-old children in a west Anatolian city and to evaluate parental approach to these lesions. The study included 924 children who presented to Ege University Hospital Healthy Child Outpatient Department between January and August 2003. A questionnaire was applied to the families while all children were examined scrupulously for the presence of mongolian spots. The frequency of these lesions in the study population was determined to be 26%; this rate was 20% and 31% in boys and girls, respectively. No lesion was detected in blond-haired children; however, it was detected in 47% of brunettes. Most common localizations were lumbosacral, gluteal, and back, though knee, scalp and feet were also encountered. Upon questioning, most parents stated it was a birth mark; however, 10% accepted to consult a doctor about the issue. In conclusion, identifying mongolian spots and informing parents are essential to strengthen the family-doctor relationship.

One-year survey of cutaneous lesions in 1000 consecutive Iranian newborns.

Our objective was to study skin disorders in neonates within the first 48 hours of life in Ahvaz, Iran. One thousand consecutive neonates were examined in a descriptional prospective cohort study for 1 year (2002-03). The rate of skin disorders and their relationship to age of gestation and sex were calculated and analyzed using the computerized program SPSS version 10 and chi-squared test (chi2). Our findings were Mongolian spots (71.3%), Epstein pearls (70.2%), sebaceous hyperplasia (43.7%), salmon patch (26.2%), hypertrichosis (25.7%), erythema toxicum (11.1%), milia (7.5%), desquamation (1.9%), hemangioma (1.3%), and miliaria (1.3%). The most frequent skin disorders were Mongolian spots, Epstein pearls, and sebaceous hyperplasia. Differences between our study findings and those of others may be based on racial differences and study method.