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

The clinical picture of the Schimmelpenning-Feuerstein-Mims (or nevus sebaceus linearis) syndrome is described. The syndrome especially its excessive formes, is a relatively rare, but typical biotype of the neuroectodermal phakomatosis disorders. Symptomes are multiple widespread linear sebaceus nevi, seizures and mental retardation, ECG anomalies and ocular dysplasia and dystrophia, which can cause blindness.
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PMID:[Schimmelpenning-Feuerstein-Mims-syndrome (author's transl)]. 11 1

A case of Feuerstein-Mims syndrome (naevus sebaceous, convulsions and mental retardation) is described in association with vitamin D resistant reckets.
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PMID:Feuerstein and Mims syndrome with resistant rickets. 18 80

Three cases of odontodysplasia are described, and the literature is reviewed with reference to proposed etiologic mechanisms underlying the pathogenesis of the disorder. The distribution of affected teeth in all four quadrants of one patient is offered as evidence against a somatic mutation as an etiologic mechanism. As infants all three patients had vascular nevi in the facial skin overlying the area where defective teeth developed. Three cases from the literature involved similar vascular lesions. Hypoplastic teeth radiographically similar to odontodysplastic teeth occur in the linear sebaceous nevus syndrome. These findings strongly suggest that local vascular defects are involved in the pathogenesis of odontodysplasia.
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PMID:Odontodysplasia. Report of three cases with vascular nevi overlying the adjacent skin of the face. 21 55

A female infant was noted at birth to have severe skeletal anomalies of the right upper and lowere extremities. These anomalies were associated with an inflammatory linear verrucous epidermal nevus (ILVEN). Like the noninflammatory type of epidermal nevus, ILVEN may be a component of the epidermal nevus syndrome.
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PMID:Inflammatory linear verrucous epidermal nevus. Association with epidermal nevus syndrome. 50 64

Solomon's epidermal nevus syndrome is a questionable entity, because of its clinical heterogeneity. Four cases are presented in this paper, with emphasis on the complex relationship between variable types of epidermal nevi and diverse kinds of associated nervous, ocular and bone abnormalities. Nevertheless, it is of practical interest to know the frequency and the variability of these ectodermal and mesodermal associated defects; whatever the epidermal nevus, a careful examination must be carried out, in search of ocular, nervous, bone and renal signs, and, less frequently, but more often than in other children, these patients seem to be exposed to visceral malignancies.
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PMID:[Knowledge of Solomon's epidermal nevus syndrome (author's transl)]. 53 7

A child with an epidermal nevus was diagnosed at the age of 15 months as having an embryonal rhabdomyosarcoma of the bladder. This child also had pigmentary abnormalities characteristic of the epidermal nevus syndrome. The question is again asked whether patients with epidermal nevi have an increased incidence of tumors. It is suggested that the thorough evaluation of these patients as recommended by Solomon should also include an alertness for the development of earlier-than-anticipated neoplasms.
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PMID:Epidermal nevus and rhabdomyosarcoma. 96 36

The organoid nevus is a malformation of most of the normal tissue components in a strictly localized, smaller or larger area of skin, most commonly the scalp. It undergoes more or less predictable developmental changes in puberty and then remains stable, but is subject to secondary development of benign or semimalignant adnexal tumors in a significant percentage of cases. It may present clinically and histologically in a variety of forms, the most common ones being nevus sebaceus and nevus verrucosus. It may be associated with neurologic and skeletal abnormalities in the organoid nevus syndrome (Schimmelpenning-Feuerstein-Mims). Total excision before adolescence is the treatment of choice.
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PMID:Organoid nevus. 103 22

From the original description of Altman and Mehregan (1971) a new clinical type of linear nevus is known as inflammatory linear verrucous epidermal nevus (ILVEN). Two girls of 5 and 4 years of age are reported. One of them had good therapeutical results with the use of trichloroacetic acid. The clinical and histopathological aspects of this nevus are reviewed and the differential diagnosis should be done with: lichen planus, lichen striatus, linear psoriasis, zoniform dermatitis, naevus unius lateris.
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PMID:[Inflammatory verrucous epidermal nevus (IVEN)]. 103 98

It has been postulated that the phakomatoses are paracrine growth regulation disorders (paracrinopathies). To determine how Jadassohn nevus phakomatosis (JNP) may fit such a pathogenetic model, a phenotype analysis of 13 propositi with JNP and a review of most reported JNP patients were done. The phenotypes of the propositi and the reviewed patients showed a great variability from a solitary congenital epidermal nevus to extensive cutaneous lesions with associated severe non-cutaneous anomalies. Review of long-term observations of JNP patients demonstrated considerable phenotypic changes within and beyond the boundaries of the nevi. The changes included a multitude of postnatal rare benign and/or malignant tumors and unusual manifestations: renal rickets, hepatomegaly, visceral cysts, vasculopathy, and even gangrene. Thus, a life-long predisposition to dysregulation of paracrine growth factors (GFs, regulatory peptides, peptide regulatory factors, and cytokines), foremost somatomedin-C (Sm-C, IGF-I), epidermal, fibroblast, platelet-derived GFs, and transforming GF-beta is implied. Laboratory evidence for the presumed GF dysregulation in the phakomatoses came from tissue culture study of patients with neurofibromatosis type 1 (NF-1). Compared to controls their "normal" skin showed ultrastructural changes of markedly increased number of melanin macroglobuli within the melanocytes. Paracrine GFs as relevant to hamartomatous growth were incriminated by radioimmunoassays of cutaneous neurofibromas showing two-fold or greater increase of Sm-C levels compared to the levels in the adjacent skin. Thus, NF-1 appears to be a paracrinopathy. JNP shows many more dynamic changes throughout the life span of the patients than NF-1. In the near future paracrinology may aid endocrinology and oncology in treating patients with disorders of these three growth mechanisms in man.
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PMID:Hypothesis: Jadassohn nevus phakomatosis: a paracrinopathy with variable phenotype. 162 54

We report two patients with epidermal nevus: one with linear verrucous nevus and one with inflammatory linear verrucous epidermal nevus. The patients first showed manifestations of nevus at different ages (soon after birth and at the age of seven), and the findings progressed differently. In both cases, warty plaques were located unilaterally, strictly following Blaschko's lines.
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PMID:Two cases of unilateral verrucous nevus. 162 14


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