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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

Parents of 751 children affected by cancer/leukemia, congenital heart disease, strawberry nevus or mental retardation have been investigated with respect to their reproductive history and their exposure to risk factors for spontaneous abortion. Differences between the four groups were established for the number of children in the sibship, the proportion of multigravidae and the spontaneous abortion rate among these women. The greatest differences were observed in the two groups of malformed children compared with the other two groups, being as marked in those with a severe malformation (heart defect) as in those with a benign one (strawberry nevus). Taking known risk factors for spontaneous abortion into account did not explain the observed differences. An etiological hypothesis is put forward which takes account of the high proportion of quantitative abnormalities of the karyotype associated with congenital heart disease and spontaneous abortion.
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PMID:Spontaneous abortions in sibship of children with congenital malformation or malignant disease. 26 88

Sturge-Weber-Krabbe syndrome is a rare congenital neuro-cutaneous disease which is characterized, in its full clinical expression, by facial naevus flammeus and epilepsy with mental retardation. Different atypical cases in which one or more symptoms are missing and clinical course is benign, have been reported in the literature in recent years. In the present paper a possible case of this syndrome radiologically diagnosed, without neurological and cutaneous symptoms, is reported; the importance of a more comprehensive study of this complex disorder, with particular attention to the incomplete forms, is stressed.
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PMID:[Asymptomatic bilateral occipital calcifications. A possible atypical form of Sturge-Weber-Krabbe syndrome?]. 146 38

The authors report a case of extensive verrucous epidermal naevus of the face in a 15 year old Senegalese boy. This is the second reported case in Western Africa following the case presented to the French Language African Medical Society in 1984 (B. Ndiaye). The skin lesion in the form of a naevus of variable dimensions is an essential manifestation of the epidermal naevus syndrome described by Solomon, Fretzin and Dewald in 1968. This syndrome consists of a variable but inconstant association of dysembryoplastic abnormalities affecting the central nervous system (epilepsy, mental retardation, hydrocephalus, localized central deficits), the eye (fibrous conjunctival tumours, corneal opacities, colobomas) and the bones (spine, clavicle, pelvis, limb bones). The bones may be affected by malformations or hypoplasia. The epidermal naevus generally has a linear verrucous appearance, but it is not exceptional to find Jadassohn's sebaceous naevus or even localized erythroderma ichthyosiformis. Mucosal lesions, especially oral, well described in 1960 by Brown and Gorlin, correspond to a particular localization of epidermal naevus and must be differentiated histologically from white sponge naevus, which has a fairly similar clinical appearance. This non-hereditary disease must be systematically investigated looking for visceral abnormalities which are very common. Lastly, in terms of therapy, surgery may be justified when the facial lesions are unsightly, extensive or disabling. Various techniques may be applied depending on the extent and the site of these naevi.
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PMID:[Verrucous epidermal nevus of the face]. 171 8

The epidermal nevus syndrome (ENS) is a sporadic neurocutaneous disorder that consists of epidermal nevi and congenital anomalies involving the brain and other systems. From among over 60 patients with ENS presenting with neurologic manifestations, we identified 17 who had hemimegalencephaly based on pathologic or radiologic studies. Associated brain and neurologic abnormalities included gyral malformations in 12 of 12, mental retardation in 13 of 14, seizures in 16 of 17 (including 9 with infantile spasms), and contralateral hemiparesis in 7 of 12. All had ipsilateral epidermal nevi of the head, and several had ipsilateral facial hemihypertrophy. We concluded that these abnormalities comprise a recognizable neurologic variant of ENS that we believe represents the full expression of primary brain involvement. Several patients also had evidence of acquired brain lesions such as infarcts, atrophy, porencephaly, and calcifications, which are best explained by prior ischemia or hemorrhage. Given repeated observations of blood vessel anomalies in ENS patients, we hypothesize that underlying vascular dysplasia predisposes to these acquired lesions. The same cause may be invoked to explain the wide variety of neurologic symptoms reported in ENS patients without hemimegalencephaly. While the cause of ENS remains unknown, several observations suggest a somatic mutation.
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PMID:Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy. 199 73

A 41-year-old female patient with mental retardation and generalized epileptic seizure had a nonmosaic idic (X) (pter-q21.32::q21.32-pter) chromosome in peripheral lymphocytes and bone marrow cells. Primary amenorrhea, myelodysplastic syndrome, pigmented nevi and characteristic facial appearance were also observed. A few cases with the nonmosaic idic (X) (q::q) with various breakpoints reported previously commonly showed ovarian failure with dysfunction of relevant hormone. CNS abnormalities of the present case were demonstrated by CT, MRI and SPECT using 123I-IMP. CNS abnormalities were considered to be possibly due to karyotype with a nonmosaic idic (X) (q21.32).
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PMID:Neuropsychiatric disturbances in a patient with a nonmosaic isodicentric (X) (q21.32) chromosome. 212 33

A boy with linear sebaceous nevus syndrome was followed up to 3 years of age, at which time he died of pneumonia. The lesions of nevus sebaceus were located in the midline and on both sides of the face, and there were partial colobomata of the right outer canthus continuous with pseudopterygium and of the left upper eyelid. At 2 months of age, the patient developed infantile spasms. At 1 year, electroencephalography revealed hypsarrhythmia, and left carotid angiography showed an arteriovenous malformation. At 2 years, the mental retardation and delayed motor development were detected.
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PMID:Linear sebaceous nevus syndrome. 226 82

A patient is reported who developed dysplastic naevi at an early age. He also suffered from a syndrome including Wilms' tumour, aniridia, mental retardation and diabetes mellitus in association with an interstitial deletion of the short arm of chromosome 11. It is suggested that genetic factors may be important in sporadic as well as familial cases of the dysplastic naevus syndrome.
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PMID:Dysplastic naevi in association with partial deletion of chromosome 11. 231 Dec 80

The main symptom of the organoid nevus syndrome (Schimmelpenning-Feuerstein-Mims-Syndrom) is the nevus sebaceous, which is mostly linear and can be of variable expression. Malformations of the skeletal system and the eyes are usually associated, while malformations of the cardio-vascular system are less common. Neurological findings such as mental retardation and seizures are of clinical relevance. We describe a case and discuss this rare syndrome.
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PMID:[Organoid nevus syndrome (Schimmelpenning-Feuerstein-Mims syndrome): case report and literature]. 264 38


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