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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In phacomatosis pigmentokeratotica, papular nevus spilus coexists with nevus sebaceus. The disorder was thought to be a didymosis with early postzygotic recombination. In this issue, however, Groesser and co-workers provide a new concept. Both nevi originate from a single heterozygous HRAS mutation in a pluripotent progenitor cell. This new understanding has implications for other proposed examples of didymosis in humans.
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PMID:Phacomatosis pigmentokeratotica is a "pseudodidymosis". 2333 91

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.
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PMID:Photoletter to the editor: A neurocutaneous rarity: phacomatosis pigmentokeratotica. 2502 80

Ductal carcinoma in situ (DCIS) in the mammary glands consists of a proliferation of ductal luminal cells with preserved polarity but lacking the marked intercellular cohesion of hyperplastic cells. We report two cases of DCIS arising in the apocrine glandular structures of a nevus sebaceus (NS). The first patient was a 44-year-old woman with a ductal neoplasm composed of multilayered ductal elements with a monomorphous cellularity and a polar orientation of nuclei. The neoplastic cells were positive for Cm5.2 and CK7. The second patient was a 67-year-old woman with phacomatosis pigmentokeratotica. A skin biopsy of an erythematous plaque within her NS showed an epithelioid monomorphous tumor with eosinophilic and slightly granular cytoplasm. Slight nuclear pleomorphism with some hyperchromatic nuclei was seen. The tumor cells were positive for CK7 and gross cystic disease fluid protein-15. Actin showed a preserved layer of myoepithelial cells in both cases. Our cases are noteworthy, as secondary malignancies or multiple tumors arising in NS are rare, and the presence of multiple neoplasms in phacomatosis pigmentokeratotica is even rarer. Moreover, these tumors expand the spectrum of secondary malignant neoplasms arising in NS, as they closely resemble mammary DCIS.
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PMID:Apocrine intraductal carcinoma in situ in nevus sebaceus: two case reports. 2530 33

Tau is a normal microtubule-associated protein; mutations to phosphorylated or acetylated forms are neurotoxic. In many dementias of adult life tauopathies cause neuronal degeneration. Four developmental disorders of the fetal and infant brain are presented, each of which exhibits up-regulation of tau. Microtubules are cytoskeletal structures that provide the strands of mitotic spindles and specify cellular polarity, growth, lineage, differentiation, migration and axonal transport of molecules. Phosphorylated tau is abnormal in immature as in mature neurons. Several malformations are demonstrated in which upregulated tau may be important in pathogenesis. All produce highly epileptogenic cortical foci. The prototype infantile tauopathy is (1) hemimegalencephaly (HME); normal tau is degraded by a mutant AKT3 or AKT1 gene as the aetiology of focal somatic mosaicism in the periventricular neuroepithelium. HME may be isolated or associated with neurocutaneous syndromes, particularly epidermal naevus syndromes, also due to somatic mutations. Other tauopathies of early life include: (2) tuberous sclerosis complex; (3) focal cortical dysplasia type 2b (FCD2b); and (4) ganglioglioma, a tumor with dysplastic neurons and neoplastic glial cells. Pathological tau in these infantile cases alters cellular growth and architecture, synaptic function and tissue organization, but does not cause neuronal loss. All infantile tauopathies are defined neuropathologically as a tetrad of (1) dysmorphic and megalocytic neurons; (2) activation of the mTOR signaling pathway; (3) post-zygotic somatic mosaicism; and (4) upregulation of phosphorylated tau. HME and FCD2b may be the same disorder with different timing of the somatic mutation in the mitotic cycles of the neuroepithelium. HME and FCD2b may be the same disorder with different timing of the somatic mutation in the mitotic cycles of the neuroepithelium. Tauopathies must be considered in infantile neurological disease and no longer restricted to adult dementias. The mTOR inhibitor everolimus, already demonstrated to be effective in TSC, also may be a potential treatment in other infantile tauopathies.
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PMID:Infantile tauopathies: Hemimegalencephaly; tuberous sclerosis complex; focal cortical dysplasia 2; ganglioglioma. 2545 14

Phacomatosis pigmentovascularis is a rare syndrome characterized by the coexistence of a pigmented nevus and a cutaneous vascular malformation. We report a 5-year-old boy with all the typical findings of phacomatosis pigmentovascularis type Ia. Although its existence according to the traditional classification has been questioned, this case represents a very rare association of a capillary vascular malformation and a common keratinocytic nevus of the soft type.
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PMID:Vascular malformation and common keratinocytic nevus of the soft type: phacomatosis pigmentovascularis revisited. 2550 41

Oculocutaneous albinism, Menkes syndrome, tuberous sclerosis, neurofibromatosis type 1, dyskeratosis congenita, lentiginosis profusa syndrome, incontinentia pigmenti, and Waardenburg syndrome all are genodermatoses that have well established gene mutations affecting multiple biological pathways, including melanin synthesis, copper transport, cellular proliferation, telomerase function, apoptosis, and melanocyte biology. Onchocerciasis results from a systemic inflammatory response to a nematode infection. Hypomelanosis of Ito is caused by chromosomal mosaicism, which underlies its phenotypic heterogeneity. Incomplete migration of melanocytes to the epidermis and other organs is the underlying feature of nevus of Ota. Vogt-Koyangi-Harada and vitiligo have an autoimmune etiology; the former is associated with considerable multiorgan involvement, while the latter is predominantly skin-limited.
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PMID:Pigmentary disorders of the eyes and skin. 2570 35

The categorization of congenital hypo- or hyperpigmented skin lesions following a segmental pattern has been a long-lasting matter of debate and have been reported under various and often incorrect terms. To reassess published hypomelanotic and hypermelanotic lesions that did not follow Blaschko lines nor a phylloid pattern of mosaicism, we carried out an extensive and critical review of the worldwide literature. Seventy-four retrieved cases consisted of lateralized hypomelanotic lesions arranged in a flag-like pattern or appearing as large patches of grossly oval or angulated shape and sharp, serrated margins. Sometimes lesions harboured maculopapular melanocytic naevi or cooccurred with other segmentally arranged naevi. A probably non-random association with extracutaneous anomalies was also reported on rare occasions. In 70 cases, lateralized hypermelanotic patches were arranged in a flag-like pattern that often appeared as large quadrangular patches. Sometimes lesions harboured Spitz naevi. Ten cases belonged to phacomatosis melanorosea, whereas several others were part of so far uncategorized cases of phacomatosis pigmentovascularis. Flag-like hypomelanosis is a distinct naevus type, for which the term 'flag-like hypomelanotic naevus' is suggested. Its cooccurrence with extracutaneous abnormalities might represent a specific syndrome. Flag-like hypermelanosis is a distinct naevus type, for which the term 'flag-like hypermelanotic naevus' is suggested. Its co-occurrence with naevus roseus defines phacomatosis melanorosea. Flag-like hypermelanotic naevus should be distinguished from the checkerboard-like areas of darker skin as observed in chimaeras.
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PMID:Segmental hypomelanosis and hypermelanosis arranged in a checkerboard pattern are distinct naevi: flag-like hypomelanotic naevus and flag-like hypermelanotic naevus. 2575 16

Phacomatosis pigmentovascularis is a rare genodermatosis characterized by the combination of an extensive pigmentary nevus with a widespread vascular nevus. The coexistence of aberrant dermal melanocytosis and cutis marmorata telangiectatica congenita has been termed phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata. Phacomatosis pigmentovascularis type V was first described in a 3-month-old boy in 2000. Since then, there have been a further seven cases published in the literature.
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PMID:Red-white and blue baby: a case of phacomatosis pigmentovascularis type V. 2615 69

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.
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PMID: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. 2631 61

Phacomatosis pigmentovascularis (PPV) is a rare genodermatosis characterized by the co-existence of an extensive vascular and a pigmentary nevus with or without extracutaneous manifestations. We report two such rare cases. The first is a 3-year-old boy exhibiting a rare association of cutis marmorata telangiectatica congenita with aberrant dermal melanocytosis along with hypospadias and melanosis oculi (traditionally classified as PPV type Vb or phacomatosis cesiomarmorata - Happle's classification). The other patient is a 5-year-old boy with Sturge-Weber syndrome, Klippel-Trenaunay syndrome, aplasia of iliac, femoral, and popliteal veins and congenital heart disease, associated with aberrant dermal melanocytosis and melanosis oculi (also classified as PPV type IIb or phacomatosis cesioflammea). These sporadic cases display a unique constellation of additional, previously unreported systemic associations, which will further expand the clinical spectrum of phacomatosis pigmentovascularis.
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PMID:Phacomatosis cesiomarmorata with hypospadias and phacomatosis cesioflammea with Sturge-Weber syndrome, Klippel-Trenaunay syndrome and aplasia of veins -- case reports with rare associations. 2643 84


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