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The Australasian Journal of Dermatology Nov 2023
Topics: Humans; Infant; Gangliosidosis, GM1; Mongolian Spot; Skin Neoplasms
PubMed: 37622432
DOI: 10.1111/ajd.14146 -
The Journal of Pediatrics Jul 2018
Topics: Female; Gangliosidosis, GM1; Humans; Infant; Mongolian Spot; Skin Neoplasms
PubMed: 29681451
DOI: 10.1016/j.jpeds.2018.02.067 -
Clinics in Dermatology 1989Brown hyperpigmented disorders may be melanotic in which there is a normal number of epidermal melanocytes but melanin pigment is increased in the epidermis (eg,... (Review)
Review
Brown hyperpigmented disorders may be melanotic in which there is a normal number of epidermal melanocytes but melanin pigment is increased in the epidermis (eg, melasma), melanocytotic, in which melanocytes are increased (eg, café-au-lait macules), and nonmelanotic hyperpigmentation (eg, minocycline pigmentation). Blue hyperpigmented disorders may also be melanotic in which there is a normal number of epidermal melanocytes, but melanin pigment is present in the upper dermis (eg, gray/slate pigmentation in Riehl's melanosis), melanocytotic in which melanocytes are present in both the epidermis and dermis (eg, blue pigmentation in Nevus Ota and Mongolian spot), and nonmelanotic hyperpigmentation in which pigment is present in the deep dermis (eg, blue pigmentation in tattoos). Hypomelanosis (leukoderma) may be divided histopathologically into melanocytopenic disorders on which melanocytes are absent (eg, Vogt-Koyanagi-Harada syndrome and vitiligo), melanopenic disorders in which melanocytes are present but melanin is reduced (eg, nevus depigmentosus and incontinentia pigmenti achromians), and nonmelanotic disorders in which melanin pigmentation is unaffected (nevus anemicus) and the pigmentary abnormality is caused by something other than melanin. There are numerous pigmentary disorders in the oriental skin, and some of them are either characteristic to or established in the orientals. Importantly, a number of congenital hypermelanotic and hypomelanotic diseases (eg, nevus depigmentosus, incontinentia pigmenti, and incontinentia pigmenti achromians, take a distribution following to the Blaschko's line.
Topics: Asian People; Humans; Melanosis; Pigmentation Disorders
PubMed: 2667736
DOI: 10.1016/0738-081x(89)90053-9 -
Actas Dermo-sifiliograficas 1963
Topics: Abdomen; Biopsy; Diseases in Twins; Humans; Infant; Infant, Newborn; Lumbosacral Region; Mongolian Spot; Pathology; Pigmentation Disorders; White People
PubMed: 14075950
DOI: No ID Found -
Clinical Dysmorphology Jan 2021GM1 gangliosidosis is a lysosomal storage disorder, characterized by psychomotor deterioration, visceromegaly, facial coarseness, retinal cherry-red spots, and skeletal...
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.
Topics: Alleles; Gangliosidosis, GM1; Genetic Association Studies; Genetic Predisposition to Disease; Homozygote; Humans; India; Leukocytes; Mongolian Spot; Mutation; Phenotype; beta-Galactosidase
PubMed: 33038107
DOI: 10.1097/MCD.0000000000000353 -
The Journal of Dermatology Jun 2007A 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,... (Review)
Review
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.
Topics: Arm; Back; Buttocks; Diagnosis, Differential; Face; Humans; Infant; Low-Level Light Therapy; Male; Mongolian Spot; Neck; Nevus of Ota; Shoulder; Skin Neoplasms
PubMed: 17535403
DOI: 10.1111/j.1346-8138.2007.00292.x -
International Journal of Legal Medicine May 2020Mongolian spots (MS) are congenital dermal conditions resulting from neural crest-derived melanocytes migration to the skin during embryogenesis. MS incidences are...
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).
Topics: Adolescent; Age Distribution; Child; Child Abuse; Child, Preschool; Ethnicity; Female; Humans; Incidence; Infant; Male; Mongolian Spot; Physical Examination; Prospective Studies; Skin Neoplasms
PubMed: 32166386
DOI: 10.1007/s00414-019-02208-9 -
The Journal of Investigative Dermatology Mar 1954
Topics: Humans; Mongolian Spot; Nevus; Nevus of Ota; Nevus, Blue; Nevus, Pigmented; Pigmentation; Skin Neoplasms
PubMed: 13130904
DOI: 10.1038/jid.1954.28 -
Seminars in Dermatology Mar 1995Skin diseases in black children differ because of pigment lability, fibroblastic activity, and folliular predominance. Normal findings may include Futcher's or Voight's... (Review)
Review
Skin diseases in black children differ because of pigment lability, fibroblastic activity, and folliular predominance. Normal findings may include Futcher's or Voight's line, linea alba, Mongolian spot, and pigmentation of the mucous membranes and nails. Disorders that are more frequent in black children are transient neonatal pustular melanosis, infantile acropustulosis, tinea capitis, pomade acne, traction alopecia, and proximal trichorrhexis nodosa. Disorders that vary in appearance but not incidence include pityriasis alba, vitiligo, and alopecia areata. A knowledge of this helps in the treatment of the black child with a skin disorder.
Topics: Black People; Child; Child, Preschool; Diagnosis, Differential; Female; Fibroblasts; Hair; Humans; Infant; Infant, Newborn; Male; Skin; Skin Diseases; Skin Pigmentation
PubMed: 7742234
DOI: 10.1016/s1085-5629(05)80034-3 -
South African Medical Journal =... Sep 1981
Topics: Bibliographies as Topic; Humans; Nevus, Pigmented
PubMed: 7025266
DOI: No ID Found