Hunter Syndrome with Extensive Mongolian Spots

No abstract available.

Asociación de melanocitosis dérmica con enfermedades lisosomales / Association of dermal melanocytosis with lysosomal storage diseases

Introducción: la melanocitosis dérmica incluye un espectro de lesiones de piel que abarca la mancha mongólica, entre otras lesiones. Las enfermedades lisosomales son afecciones de base genética que se caracterizan por la acumulación de metabolitos insolubles parciamente degradados en los compartimentos lisosomales, debido a una determinada deficiencia enzimática. Las deficiencias de b-galactosidasa y de a-L-iduronidasa provocan la gangliosidosis GM1 y la mucopolisacaridosis tipo I respectivamente, ambas presentando similitudes en su presentación clínica. La asociación de la melanocitosis dérmica con las enfermedades lisosomales es poco común y mal entendida. Objetivo: reportar dos pacientes con esta rara asociación. Casos clínicos: dos varones de 3 y 9 meses sin antecedentes prenatales ni perinatales a destacar y antecedentes de infecciones respiratorias reiteradas. Se presentaron con retraso del desarrollo, hipotonía central y trastorno deglutorio. Al examen se constató hepatomegalia, fascies tosca y melanosis dérmica extensa. Los estudios permitieron diagnosticar al paciente de 3 meses mucopolisacaridosis Tipo I y al de 9 meses gangliosidosis GM1. Discusión: no se conoce exactamente la causa de esta asociación. Se plantea que sería el resultado de la acumulación de gangliósidos y heparán sulfato que estimularían al receptor del factor de crecimiento neuronal de tipo tirosinquinasa, deteniendo la migración de los melanocitos en la dermis. Por lo tanto la melanosis dérmica aberrante, en el contexto clínico adecuado, puede ser un signo que facilite el diagnóstico de una enfermedad lisosomal subyacente.

Introduction: dermal melanocytosis includes a spectrum of skin lesions, mongolian spots being one of them. Lysosomal storage diseases are characterized by the accumulation of partially degraded insoluble metabolites in lysosomal compartments due to enzyme deficiency. Deficiency in b-galactosidosisis is the cause of GM1 gangliosidosis and deficiency in a-L-iduronidasa of mucopolysaccharidosis type I. Both have similar clinical presentations. Association of dermal melanocytosis and lysosomal storage diseases is uncommon and misunderstood. Objective: to report the case of two patients with this rare association. Clinical cases: the study presents two boys, 3 and 9 months old, with no remarkable family, pregnancy or delivery history. Both had repeated respiratory tract infections. They presented with developmental delay, central hypotonia and swallowing disorder. Upon clinical examination they showed hepatomegaly, coarse facies and extensive dermal melanocytosis. They were diagnosed with GM1 gangliosidosis and mucopolysaccharidosis type I. Discussion: the cause of this association is not well known. It is hypothesized that accumulation of gangliosides and heparan sulfates stimulates tyrosine-kinase neuronal growth factor receptor, stopping dermal melanocytosis migration. Therefore extensive dermal melanocytosis, in an appropriate clinical setting, may contribute to diagnosing lysosomal storage diseases.

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.

Lesiones cutáneas en el recién nacido: perfil clínico y epidemiológico en el Hospital Nacional Dos de Mayo, 2013 - 2014 / Skin lesions in the newborn: clinical and epidemiological profile in the National Hospital Dos de Mayo, 2013 – 2014

Objetivos: Determinar el perfil clínico y epidemiológico de las lesiones cutáneas en el recién nacido, y presentar una nueva propuesta de clasificación de dichas lesiones. Materiales y métodos: Se realizó un estudio descriptivo, transversal, que incluyó a recién nacidos con una edad gestacional >= a 35 semanas, y con tiempo de vida entre 24 a 168 horas. Se diseñó una ficha de recolección de datos para anotar las lesiones encontradas. Los datos obtenidos fueron analizados con el programa estadístico STATA v.12.0. Resultados: Se recolectó datos de 312 recién nacidos, el género masculino fue predominante (58 por ciento) y casi la totalidad (97.1 por ciento) fueron nacidos a término. El 99.6 por ciento de recién nacidos presentaron alguna lesión; las lesiones transitorias se presentaron en 99 por ciento de casos y las permanentes en 12.8 por ciento. El promedio de lesiones fue de 8, con un máximo 18 lesiones por recién nacido. La lesión transitoria más frecuente fue la mancha mongólica (90.1 por ciento). El área corporal con mayor número de lesiones (11) fue la cara. La lesión permanente más frecuente fue la mancha "Café con leche" (8.3 por ciento). Se encontraron asociaciones entre algunas lesiones y factores sociodemográficos. Conclusiones: Casi todos los recién nacidos presentaron lesiones cutáneas, con mayor frecuencia transitorias, siendo la mancha mongólica el hallazgo más frecuente. Factores como estación del año, raza, edad gestacional al nacer y horas de vida pueden ser asociados a lesiones transitorias. Basados en los resultados y en la revisión bibliográfica se postula una nueva clasificación de lesiones cutáneas del recién nacido.

Objectives: To determine the clinical and epidemiological profile of skin lesions in newborns, and to submit a new classification proposal of these lesions. Materials and methods: A descriptive, cross-sectional study was performed, which included infant born with >= 35 weeks' gestation and assessed between 24 to 168 hours of life. Skin lesions findings were collected in a form designed for this purpose. Data collected was analyzed using STATA v.12.0. Results: Data was obtained from 312 newborns, male gender was predominant (58 per cent) and almost all (97.1 per cent) were full-term newborn. At least one skin lesion was presented in 99.6 per cent of cases. Transient and permanent lesions occurred in 99 per cent and 12.8 per cent of cases respectively. The average of incidents of skin lesion was 8 per newborn, with a maximum of 18 lesions per case. The most common skin lesion was transient Mongolian spot (90.1 per cent). The body area with the highest number of skin lesions (11) was the face. The most common birthmark was "Café au lait" macules (8.3 per cent). Associations were found between several skin lesions and sociodemographic factors. Conclusions: Almost all newborn had skin lesions, most frequently transient, being the Mongolian spot the most frequent finding. Factors such as season, race, gestational age at birth and hours of life can be associated with transient injuries. Based on the results of the study and a thorough literature review, we proposed a new classification of skin lesions in newborn.

An Associated Case of Common Blue Nevus with Satellite Lesions and Ectopic Mongolian Spot / 대한피부과학회지

No abstract available.

The Incidence of Birthmarks in Korean Newborn Infants

PURPOSE: Birthmarks are commonly observed during neonatal period and its prevalence varies between races and countries. Most skin lesions are transient and not require medical treatment. But some birthmarks have potential medical significance and may be the first sign of systemic medical problems. We carried out a prospective study to determine the prevalence of birthmarks in Korean newborn infants. METHODS: From October 2012 to January 2013, 1,964 Korean newborn infants who were born in Cheil General Hospital, Kwandong University College of Medicine were evaluated for the presence of birthmarks within 48 hours after birth. RESULTS: Among 1,964 newborn infants, 980 (49.9%) infants were male and 984 (50.1%) were female. The most common pigmentary birthmark was Mongolian spot (97.1%), which was mostly presented on sacrogluteal area, and was followed by nevocellular nevi (0.8%), cafe-au-lait spot (0.8%), and sebaceous nevi (0.2%). Among vascular birthmarks, the most common lesion was salmon patch (30.8%), and followed by port-wine stain (0.2%) and hemangioma (0.2%). The common other lesions were sebaceous hyperplasia (37.4%), erythema toxicum neonatorum (10.2%), milia (4.1%), skin appendage (2.6%), anal dimple (1.2%), auricular pit (0.9%), miliaria (0.5%), aplasia cutis congenita (0.2%) in the order of frequency. CONCLUSION: We studied the prevalence of the birthmarks in Korean newborn infants. The most common pigmentary birth mark was mongolian spot, and the most common vascular birthmark was salmon patch in Korean newborn infants.

Phacomatosis pigmentovascularis type IIa - case report / Facomatose pigmentovascular tipo IIa - relato de caso

Phacomatosis Pigmentovascularis is a rare syndrome characterized by capillary malformation and pigmentary nevus. A case of a 2-year-old patient is reported, who presented extensive nevus flammeus and an aberrant Mongolian spot, without systemic disease, manifestations that allow us to classify this case as type IIa Phacomatosis Pigmentovascularis, according to Hasegawa's classification.

A Facomatose Pigmentovascular, síndrome rara, é caracterizada pela presença concomitante de malformação capilar e nevos pigmentares. Relata-se o caso de um paciente de dois anos de idade com malformação capilar extensa e mancha mongólica aberrante sem comprometimento sistêmico, manifestações que o incluem no tipo IIa na classificação da Facomatose Pigmentovascular, segundo Hasegawa.

Mongolian spots.

Mongolian spots (MS) are birthmarks that are present at birth and their most common location is sacrococcygeal or lumbar area. Lesions may be single or multiple and usually involve < 5% total body surface area. They are macular and round, oval or irregular in shape. The color varies from blue to greenish, gray, black or a combination of any of the above. The size varies from few to more than 20 centimetres. Pigmentation is most intense at the age of one year and gradually fades thereafter. It is rarely seen after the age of 6 years. Aberrant MS over occiput, temple, mandibular area, shoulders and limbs may be confused with other dermal melanocytoses and bruises secondary to child abuse, thus necessitating documentation at birth. Although regarded as benign, recent data suggest that MS may be associated with inborn errors of metabolism and neurocristopathies. Mongolian spots usually resolve by early childhood and hence no treatment is generally needed if they are located in the sacral area. However, sometimes it may be required for extrasacral lesions for cosmesis.

Skin Findings in Newborns and Their Relationship with Maternal Factors: Observational Research

BACKGROUND: Cutaneous lesions are commonly seen in the newborn period and exhibit inconsistency from the skin lesions of an adult. OBJECTIVE: The present study was carried out with an aim to determine the frequency of physiologic and pathologic cutaneous findings in newborns. METHODS: Typically, 1234 newborns were included in this study. A questionnaire about maternal gestational history, maternal and family history was issued to the parents of each newborn. The presence of cutaneous lesions was recorded. RESULTS: Overall, 642 (52%) of the newborns were male and 592 (48%) were female. Typically, 831 newborns (67.3%) had at least one cutaneous lesion. The prevalence of genital hyperpigmentation and milia was significantly higher in males. In premature newborns, the pervasiveness of cutis marmorata and genital hyperpigmentation was found to be significantly higher. Caput succedaneum, transient neonatal pustular melanosis and cyanosis appeared predominantly in vaginally born infants. Erythema toxicum neonatorum was seen in infants, who were born by cesarean section. The predominance of Mongolian spots and erythema toxicum neonatorum were significantly higher in the newborns of the multiparous mothers; however, caput succedaneum was significantly higher in newborns of the primiparous mothers. CONCLUSION: A number of studies about neonatal dermatoses have been carried out involving different methods in various countries. We consider that our study may be useful in literature, as it has been carried out involving large number of maternal parameters.

Imatinib Mesylate Induced Acquired Dermal Melanocytosis / 대한피부과학회지

Dermal melanocytosis is most commonly found in the skin of Asians and other darkly pigmented populations. It is histologically characterized by the presence of ectopic melanocytes in the dermis. Mongolian spots, nevus of Ota, nevus of Ito and blue nevus are the most common types, and these are usually present at birth or in early childhood. However, acquired dermal melanocytoses that appear in adult life are rare. A 65 year-old female had taken imatinib mesylate to treat gastrointestinal stomach tumor. Few months later, brownish or slate-bluish pigmented patches appeared on her face, supraclavicular, and scapular area. The skin biopsy specimen, taken from the forehead, revealed scattered, pigmented, spindle-shaped cells, and dendritic cells containing brown pigment in the dermis. Herein, we report a case of acquired dermal melanocytosis induced by imatinib mesylate.

Cutaneous manifestations in 1000 Pakistani newborns

Cutaneous manifestations are commonly seen in neonates. Benign dermatoses in newborns must be distinguished from more serious, life threatening disorders with cutaneous manifestations. To determine the frequency of various dermatoses i.e. physiological and pathological among newborns up to 96 hours of age. 1000 full-term neonates were enrolled from labour rooms and pediatric nursery of Jinnah hospital, Lahore and were evaluated for cutaneous manifestations. All the relevant data regarding history, clinical examination and investigations were recorded and analyzed. Out of 1000 neonates, there were 469 boys and 531 girls. Their mean age was 72 hours [6-96 hrs]. Cutaneous manifestations were present in 94% of babies and 82.5% babies had more than one manifestation. The most common dermatoses were Mongolian spots [63.2%], Epstein pearls [47.8%], sebaceous hyperplasia [44.8%], miliaria [12.8%], hypertrichosis [12%], erythema toxicum neonatorum [12%], salmon patch [12%] and impetigo [11.4%]. Uncommon manifestations included desquamation 8.5%, omphalitis 8% and birth trauma [7.7%]. Rare dermatoses were hemangiomas [3.5%], cafe-au-lait macules [2.6%], congenital melanocytic nevus [2.4%], acne neonatorum [0.9%], preauricular skin tag [0.4%], cutis marmorata telangiectatica congenita and collodion baby in [0.1%] each. Cutancous manifestations one are frequent in newborns

An Unusual Case of Congenital Dermal Melanocytosis

Dermal melanocytosis is characterized by the presence of ectopic melanocytes in the dermis. The most common forms include the Mongolian spot, blue nevus, nevus of Ota, and nevus of Ito. Some types of dermal melanocytosis do not fit into any of these morphologic categories, however. Our case demonstrated an extensive amount of uniform deep blue patches of nevi with unilateral distribution on the left face, neck, chest, shoulder, and back. On histopathologic examination, a number of elongated melanocytes scattered throughout the dermis were found. We herein report a case of congenital unilateral dermal melanocytosis.

A Case of Acquired Dermal Melanocytosis Occurring on the Chest / 대한피부과학회지

Dermal melanocytosis, which is histologically characterized by the presence of dermal melanocytes, is most commonly found in Asians and other darkskinned people. It is observed in various congenital conditions such as the nevus of Ota, the nevus of Ito, the Mongolian spot and the blue nevus, and typically appears at birth or in early childhood. However, several cases that have appeared in adult life have been reported as acquired dermal melanocytosis. Herein, we report a unique case of acquired dermal melanocytosis diffusely affecting the left side of the chest of a 45-year old female. Additionally, a review of Korean literature regarding reported cases of unusual acquired dermal melanocytosis will be presented.

A Case of Uncommon Acquired Dermal Melanocytosis / 대한피부과학회지

Dermal melanocytosis includes a variety of congenital and acquired conditions characterized by a sparse population of intradermal dendritic, variably pigmented, spindle-shaped melanocytes. Mongolian spot, Ota's and Ito's nevi are usually present at birth or appear in early childhood. But, several types of acquired dermal melanocytosis that usually appear in adults have been reported. A 47-year-old woman presented with asymptomatic, multiple, symmetric, brownish to black colored macules on the nasal ala, both palms and both feet dorsum that had been there for 10 years. Histopathologic findings showed that some scattered spindle-shaped cells containing melanin pigment in the upper dermis were positive for Fontana-Masson stain and these cells were positive for S-100 protein and MART-1.

A Case of Uncommon Acquired Dermal Melanocytosis / 대한피부과학회지

Dermal melanocytosis includes a variety of congenital and acquired conditions characterized by a sparse population of intradermal dendritic, variably pigmented, spindle-shaped melanocytes. Mongolian spot, Ota's and Ito's nevi are usually present at birth or appear in early childhood. But, several types of acquired dermal melanocytosis that usually appear in adults have been reported. A 47-year-old woman presented with asymptomatic, multiple, symmetric, brownish to black colored macules on the nasal ala, both palms and both feet dorsum that had been there for 10 years. Histopathologic findings showed that some scattered spindle-shaped cells containing melanin pigment in the upper dermis were positive for Fontana-Masson stain and these cells were positive for S-100 protein and MART-1.

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 Case of Hunter Syndrome / 대한피부과학회지

We report a case of Hunter syndrome in a 4 year old boy, who presented with firm skin colored papules and nodules that coalesce to form a reticular pattern (pebbling of the skin) with extensive Mongolian spots. The lesions are arranged bilaterally and symmetrically over the scapulae, upper arm and lateral aspects of the thighs. He also has low intelligence, coarse face, saddle nose and claw hand contracture of both hands. The result of qualitative analysis of urine was positive for dermatan sulfate and heparan sulfate. And enzyme activity of iduronate-2-sulfatase is decreased in plasma and leukocyte. A skin biopsy specimen section stained with hematoxylin-eosin showed widely separated collagen bundles in the dermis associated with mucin deposition.

A Case of the Generalized Type of Acquired Dermal Melanocytosis with ABNOM and Acquired Bilateral Nevus of Ito-like Macules / 대한피부과학회지

Dermal melanocytosis is histologically characterized by the presence of ectopic melanocytes in the dermis. Mongolian spots, nevus of Ota, nevus of Ito and blue nevus are the most common types and these are usually present at birth or in early childhood. However, it has been reported that several types of dermal melanocytosis could appear in adult life. We report here on an unusual case of acquired dermal melanocytosis occurring in a 51 year-old female. She had bilaterall brownish or slate-bluish pigmented patches on the face and the posterior auricular, supraclavicular, scapular and back areas. The skin biopsy specimen taken from the upper back revealed scattered, darkly pigmented, spindle-shaped cells and dendritic cells containing abundant golden brown pigment in the dermis.

Neonatal skin diseases / 소아과

Several physiological skin changes such as vernix caseosa, cutis marmorata, physiologic desquamation, and sebaceous hyperplasia have been described in the neonatal period. There are also clinical characteristics of skin peculiar to neonate and infancy. Skin disorders observed during neonatal and infancy period can be divided into transient skin lesions, birth marks, and other diseases. Transient skin lesions include milia, sebaceous gland hyperplasia, erythema neonatorum, transient neonatal pustular melanosis, and acne neonatorum. Nevocellular nevus, mongolian spot, vascular malformation, hemangioma, epidermal nevus, and sebaceous nevus belong to birth marks. There are several common skin diseases such as miliaria, diaper dermatitis, atopic dermatitis, seborrheic dermatitis, and cutaneous candidiasis.

Facomatosis pigmentovascularis tipo IIB: Reporte de un caso / Pigmentovascularis phakomatosis type iib: Case report

La facomatosis pigmentovascularis consiste en la coexistencia de nevus vasculares y pigmentarios extensos asociados o no a anomalías extracutáneas. Reportamos un caso de facomatosis pigmentovascularis tipo IIb en un niño de 4 años de edad elcual fue evaluado también por otras especialidades, observándose leve hipertrofia del miembro superior derecho. Es importante la evaluación multidisciplinaria de estos casos debido a las múltiples asociaciones extracutáneas.