-
World Journal of Clinical Cases Nov 2013Mongolian spots (MS) are congenital birthmarks seen most commonly over the lumbosacral area. They are bluish-green to black in color and oval to irregular in shape. They...
Mongolian spots (MS) are congenital birthmarks seen most commonly over the lumbosacral area. They are bluish-green to black in color and oval to irregular in shape. They are most commonly found in individuals of African or Asian ethnic background. Although these lesions resolve by one to two years of age, widespread, extrasacral and dark colored MS sometimes persist into adulthood. 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 traditionally believed to be benign in nature, they have now been shown to co-exist with inborn errors of metabolism, most commonly GM1 gangliosidosis and mucopolysaccharidosis type I (Hurler's disease), followed by mucopolysaccharidosis type II (Hunter's syndrome), mucolipidosis, Niemann-Pick disease and mannosidosis. They have also been seen to co-exist with various vascular or other pigmented birthmarks like café-au-lait macules. Co-existing Mongolian spots and vascular birthmarks like nevus flammeus, nevus anemicus or nevus spilus is termed as phakomatosis pigmentovascularis. This review focuses on the important associations of Mongolian spots and stresses upon the importance of screening babies with extensive MS.
PubMed: 24340274
DOI: 10.12998/wjcc.v1.i8.230 -
Actas Dermo-sifiliograficas Sep 2016
Topics: Aged; Female; Humans; Neoplasms, Multiple Primary; Nevus, Blue; Nevus, Pigmented; Skin Neoplasms
PubMed: 27001348
DOI: 10.1016/j.ad.2016.01.013 -
Journal of Cutaneous Pathology Feb 2018Nevus spilus is a melanocytic neoplasm characterized by a tan macular background punctuated by multiple hyperpigmented macules or papules that represent various types of...
Nevus spilus is a melanocytic neoplasm characterized by a tan macular background punctuated by multiple hyperpigmented macules or papules that represent various types of nevi. These include junctional and compound nevi, Spitz nevi, and rarely blue nevi. We report a unique case of widespread, multiple nevi spili giving rise to agminated Spitz nevi and congenital-pattern compound nevi. We performed genetic analysis to further characterize the mutational profile of this rare entity.
Topics: Adolescent; DNA Mutational Analysis; Female; Humans; Nevus, Epithelioid and Spindle Cell; Nevus, Pigmented; Proto-Oncogene Proteins p21(ras); Skin Neoplasms
PubMed: 29210482
DOI: 10.1111/cup.13082 -
Clinical Case Reports Jun 2016Cutaneous symptoms in some patients with clinical picture of Schimmelpenning-Feuerstein-Mims syndrome can include a speckled lentiginous nevus, also known as nevus...
Cutaneous symptoms in some patients with clinical picture of Schimmelpenning-Feuerstein-Mims syndrome can include a speckled lentiginous nevus, also known as nevus spilus. Recent investigations show that somatic heterozygous HRAS mutations are present in the sebaceous and speckled lentiginous nevus tissues of patients with combination of two nevi.
PubMed: 27398198
DOI: 10.1002/ccr3.570 -
Dermatology Online Journal Aug 2011We present a dermal melanocytosis with superimposed nevus spilus on the arm of a 5-year-old boy. We recently introduced a new type of phacomatosis, which we termed...
We present a dermal melanocytosis with superimposed nevus spilus on the arm of a 5-year-old boy. We recently introduced a new type of phacomatosis, which we termed "phacomatosis pigmentopigmentalis," that is analogous to phacomatosis pigmentokeratotica or pigmentovascularis, for describing the association of two pigmented nevi. The present case is an example of this type of phacomatosis, which now we prefer to define phacomatosis pigmento-pigmentaria according to the correct Latin terminology.
Topics: Child, Preschool; Humans; Male; Nevus; Nevus, Pigmented; Skin Neoplasms
PubMed: 21906489
DOI: No ID Found -
Acta Dermatovenerologica Alpina,... Mar 2014Nevus spilus is the term usually given to a pigmented skin lesion, congenital or acquired, that may occur anywhere on the body, consisting of a large light tan patch...
Nevus spilus is the term usually given to a pigmented skin lesion, congenital or acquired, that may occur anywhere on the body, consisting of a large light tan patch with numerous superimposed darker scattered maculae or papulae that are flat or slightly raised. For a long time, nevus spilus was believed to be a benign lesion. However, in 1957 Perkinson reported a melanoma appearing on nevus spilus for the first time. Since then other reports about melanomas developing on nevus spilus have been published, sometimes with a fatal outcome. We describe the case of an 80-year-old male patient with a congenital nevus just above his left knee. The lesion had remained unchanged over time, but some months before his checkup the patient noticed a darker area in the lesion that had continued to enlarge. The lesion was removed and histological examination revealed an in situ malignant melanoma. Although nevus spilus is not normally considered a precursor of melanoma, the potentiality of malignant transformation requires regular monitoring, and careful checkups are recommended and justified.
Topics: Aged, 80 and over; Humans; Male; Melanoma; Nevus, Pigmented; Skin Neoplasms; Thigh; Melanoma, Cutaneous Malignant
PubMed: 24638867
DOI: No ID Found -
Acta Dermato-venereologica Sep 1995
Topics: Cafe-au-Lait Spots; Diagnosis, Differential; Humans; Lentigo; Mosaicism; Neurofibromatoses; Nevus, Pigmented; Skin Neoplasms
PubMed: 8615068
DOI: 10.2340/0001555575408 -
The Journal of Investigative Dermatology Apr 2019Large-giant congenital melanocytic nevi have been well characterized clinically, yet questions remain about the heterogenous phenotypes observed. Martins da Silva...
Large-giant congenital melanocytic nevi have been well characterized clinically, yet questions remain about the heterogenous phenotypes observed. Martins da Silva et al. (2018) highlight the genotypic diversity between "classic" and "spilus-like" congenital melanocytic nevi by analyzing multiple biopsy sites and matching satellite nevi. This study provides evidence for alternative modes of development beyond the well-established NRAS mutation paradigm.
Topics: GTP Phosphohydrolases; Humans; Membrane Proteins; Mutation; Nevus, Pigmented; Phenotype; Proto-Oncogene Proteins B-raf; Skin Neoplasms
PubMed: 30904080
DOI: 10.1016/j.jid.2018.10.003 -
Archivos Argentinos de Pediatria Feb 2018Phakomatosis pigmentovascularis (PPV) is a syndrome characterized by the association of a vascular nevus with a congenital pigmented lesion (epidermal nevus, nevus...
Phakomatosis pigmentovascularis (PPV) is a syndrome characterized by the association of a vascular nevus with a congenital pigmented lesion (epidermal nevus, nevus spilus, and dermal melanocytosis). There are different types of PPV according to the pigmentary nevus associated with the vascular malformation. Patients may present only the cutaneous condition or have systemic manifestations, among them, trauma, neurological and ophthalmological disorders. We report the case of a 1-year-old girl who had congenital glaucoma. On examination, we identified facial paralysis, bilateral ocular melanosis, segmental capillary vascular malformation on the face as on left trunk and extremities, and aberrant Mongolian spots on the upper back, lumbosacral area and buttocks. Due to clinical manifestation, the diagnosis of PPV was made. The patient was evaluated by Neurology, Traumatology and keeps on with ophthalmological controls. Complementary studies are important, to rule out extracutaneous manifestations in PPV.
Topics: Female; Humans; Infant; Neurocutaneous Syndromes; Phenotype
PubMed: 29333836
DOI: 10.5546/aap.2018.e121 -
Journal of Dermatological Case Reports Jun 2014Phacomatosis pigmentokeratotica is characterized by the coexistence of nevus sebaceus, papular nevus spilus and associated neurologic abnormalities. We report a case of...
Phacomatosis pigmentokeratotica is characterized by the coexistence of nevus sebaceus, papular nevus spilus and associated neurologic abnormalities. We report a case of phacomatosis pigmentokeratotica in a 28-year-old male who presented with palmar-plantar dysesthesia and ipsilateral brain hemiatrophy. As a characteristic neuroimaging finding of the disorder, we found multiple hypointense lesions involving the ipsilateral hemisphere.
PubMed: 25024780
DOI: 10.3315/jdcr.2014.1174