Mongolian Spots - A challenging clinical sign.

Mongolian Spots (MS) are the most common birthmarks in newborn children. The condition presents as greenish-bluish to greyish macules, particularly in the lumbosacral area. The incidents of MS can vary in different ethnic groups and normally fade in early childhood. MS can be misinterpreted as hematomas because of the color and the predilection site. This paper discusses the case of a two-month old female admitted to hospital under suspicion of child abuse. The clinical forensic examination of the infant and her two older sisters found the children were in good health and did not show signs of abuse, despite the infant presenting with multiple and extensive greyish-blue macules. Thirteen months later, a welfare officer requested another forensic examination on the now 15-month-old child after noticing greyish-blue macules. Following a second examination, no evidence of abuse was found. This case illustrates the issue of MS as a differential diagnosis of hematomas.

Mongolian spots in GM1 gangliosidosis: a pictorial report.

GM1 gangliosidosis is a lysosomal storage disorder, characterized by psychomotor deterioration, visceromegaly, facial coarseness, retinal cherry-red spots, and skeletal abnormalities. We report six unrelated patients with GM1 gangliosidosis with extensive Mongolian spots on the trunk and extremities that provided clue to clinical diagnosis. All patients exhibited psychomotor delay, coarse facies, hepatosplenomegaly, hypotonia, and dysostosis multiplex. Four patients had retinal cherry-red spots. The condition was confirmed by identification of very low activities of beta-galactosidase enzyme in peripheral leukocytes and biallelic pathogenic variants in the GLB1 gene. We identified one novel (c.1479G>T) and two known (c.75 + 2dup and c.1369C>T) pathogenic variants in homozygous state in them. Our work ascertains extensive Mongolian spots as a diagnostic handle for early recognition of GM1 gangliosidosis. Though a known feature of GM1 gangliosidosis, considerable variation in the prevalence and ethnic differences are observed. This report illustrates the Mongolian spots pictorially in Indian patients.

Mongolian spots as a finding in forensic examinations of possible child abuse-implications for case work.

Mongolian spots (MS) are congenital dermal conditions resulting from neural crest-derived melanocytes migration to the skin during embryogenesis. MS incidences are highly variable in different populations. Morphologically, MS present as hyperpigmented maculae of varying size and form, ranging from round spots of 1 cm in diameter to extensive discolorations covering predominantly the lower back and buttocks. Due to their coloring, which is also dependent on the skin type, MS may mimic hematoma thus posing a challenge on the physician conducting examinations of children in cases of suspected child abuse. In the present study, MS incidences and distribution, as well as skin types, were documented in a collective of 253 children examined on the basis of suspected child abuse. From these data, a classification scheme was derived to document MS and to help identify cases with a need for recurrent examination for unambiguous interpretation of initial findings alongside the main decisive factors for re-examination such as general circumstances of the initial examination (e. g., experience of the examiner, lighting conditions) and given dermatological conditions of the patient (e. g., diaper rash).

Mancha mongólica atípica: un reto diagnóstico / Atypical mongolian spot: a diagnostic challenge

La mancha mongólica o melanocitosis dérmica es la lesión pigmentada más frecuente en el recién nacido. Típicamente se localiza en la región lumbosacra, siendo infrecuente encontrarla en otras localizaciones. Presentamos el caso de un paciente con una mancha mongólica en región distal de la pierna, maléolo externo y dorso del pie izquierdo

The Mongolian spot or dermal melanocytosis is the most common pigmented lesion of the newborn. It is located typically in the lumbo-sacral region and it is not common to be found in other regions of the body. We present the case of a patient with a Mongolian spot in the distal region of the leg, external malleolus and the back of the left foot

Halolike Phenomenon Around a Café au Lait Spot Superimposed on a Mongolian Spot.

An 8-month-old Caucasian infant with neurofibromatosis type 1 presented with a congenital plexiform neurofibroma and multiple café au lait spots. A pale area surrounded one of the café au lait spots located on the left gluteus in the area of dermal melanocytosis. This halolike phenomenon results from the disappearance of the Mongolian spot around the café au lait spots, revealing normal pigmented skin. This sign has been described rarely in the literature and the pathogenic mechanism is unclear.

Extensive and Progressing Congenital Dermal Melanocytosis Leading to Diagnosis of GM1 Gangliosidosis.

Congenital dermal melanocytosis (CDM) is a birthmark composed of macular blue-grey hyperpigmentation commonly observed in the lumbosacral region of infants. Generally resolving by childhood, it is traditionally considered a benign condition, but it may be a sign of underlying lysosomal storage disease. We report a case of biopsy-confirmed CDM in a 2-month-old girl of Brazilian descent later diagnosed with infantile GM1 gangliosidosis.

A unique blue spot.

We report the unusual case of a 3-year-old child with a Mongolian blue spot present both around the auricle externally and on the tympanic membrane itself.

Diffuse dermal melanocytosis in two patients with Sandhoff disease and mucopolysaccharidosis VI.

Dermal melanocytosis (DM) is described as the presence of ectopic melanocytes in the dermis and could be a normal cutaneous finding. However, diffuse DM or extensive Mongolian spots must be considered as an early sign of neurometabolic diseases, in particular lysosomal storage disorders. The presence of extensive DM should alert the physician to the presence of such disorders, making early diagnosis possible. We describe for the first time the presence of DM in two patients with Sandhoff disease and mucopolysaccharidosis VI.

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.