A female infant with phacomatosis pigmentovascularis and congenital chylous ascites: A case report.

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.

[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.

Phacomatosis cesioflammea with unilateral lipohypoplasia.

Phacomatosis cesioflammea is characterized by the co-existence of a large nevus cesius (i.e., aberrant Mongolian spot, or nevus fuscocoeruleus) and an extensive nevus flammeus (i.e., port-wine stain). This sporadic genetic skin disorder represents a particular type of phacomatosis pigmentovascularis, a group of disorders that may reflect twin spotting. We report on a 28-year-old woman with aberrant Mongolian spots, bilateral melanosis bulbi, and systematized nevus flammeus partly intermingled with nevus anemicus. Moreover, pronounced lipohypoplasia of the right buttock and thigh as well as hypoplasia of the right breast are present. This anomaly of fatty tissue has not previously been reported in phacomatosis cesioflammea and further expands the clinical spectrum of this mosaic disorder. The patchy distribution of lipohypoplasia and its spatial relationship with vascular lesions strongly support the hypothesis of a postzygotic recombination event.

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.

Hypermelanoses of the newborn and of the infant.

This article discusses hypermelanoses present at birth or appearing in the first months of life. They may be transient or permanent, localized - as in café-au-lait spots - or segmental, or more rarely, complex or generalized. In most pigmentary diseases, physical examination, including Wood's lamp examination and a detailed history, is usually sufficient. Time of onset, distribution pattern, and associated clinical and sometimes histopathologic findings are helpful in differentiating these disorders. Recently, molecular diagnosis has become available for some rare entities, such as hereditary symmetrical dyschromatoses, but the bulk of nevoid lesions are not understood at the molecular level.

Mongolian spots with involvement of mandibular area.

A 1-year-old boy had grayish pigmentation on the left side of his face over the area supplied by the mandibular branch of the trigeminal nerve. Upon further examination, the lesion was also found on the left side of the neck, shoulder, upper arm, right lower back and buttock. The pigmentation was uniform in intensity. This case report demonstrates that Mongolian spots can occur on the face in the area supplied by the mandibular branch of the trigeminal nerve. These spots should not be misdiagnosed as nevus of Ota.

Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata).

A 1-month-old boy showed cutis marmorata telangiectatica congenita (CMTC) involving a block-like pattern on his left leg and thigh and on the left side of his trunk, along with bilateral greyish-blue hyperpigmentation involving the buttocks and thighs and being in part intermingled with CMTC. This association of CMTC with Mongolian spots has been reported as a distinct type of phacomatosis pigmentovascularis (PPV), namely PPV type V. More recently, the term phacomatosis cesiomarmorata (cesius = blue) has been proposed. We believe phacomatosis cesiomarmorata is another example of twin spotting or didymosis.

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.