Cases reported "Nevus"

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1/40. Epidermal naevus syndrome and hypophosphataemic rickets: description of a patient with central nervous system anomalies and review of the literature.

    The epidermal naevus syndrome (ENS) is a rare dermatological condition consisting of congenital epidermal nevi associated with anomalies in the central nervous system, bones, eyes, hear or genito-urinary system. We report a new case of ENS associated with hypophosphataemic rickets. The girl was born with a mixed-type epidermal naevus and skeletal anomalies. Hypophosphataemic rickets was diagnosed at the age of 2.5 years. At 14 years of age. MRI of the head demonstrated right brain hypotrophy, a left temporal arachnoid cyst and asymmetric lateral ventricles. We reviewed the literature and found 13 reported cases of ENS associated with hypophosphataemic rickets. Conclusion We report a further patient with epidermal naevus syndrome and hypophosphataemic rickets, followed from birth to the age of 15 years, who had structural central nervous system anomalies with normal intellectual functioning. A comprehensive neurological work up is recommended in patients with epidermal naevus syndrome.
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keywords = rickets
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2/40. The spectrum of epidermal nevi: a case of verrucous epidermal nevus contiguous with nevus sebaceus.

    During the normal development of skin, pluripotential cells give rise to keratinocytes, sebaceous glands, hair follicles, apocrine glands, and eccrine glands. In epidermal nevi, these components emerge in an abnormal mixture within a circumscribed site. Many authors have categorized epidermal nevi based on their predominant component; however, there is often notable overlap that occurs within a single area or within contiguous areas. We report a verrucous epidermal nevus contiguous to a nevus sebaceus of Jadassohn. The categories of epidermal nevi are somewhat artificial. Our case supports the view that epidermal nevi have a spectrum of manifestations, including verrucous epidermal nevi and nevus sebaceus of Jadassohn.
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ranking = 0.00051626845798147
keywords = dominant
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3/40. Systematized porokeratotic eccrine and hair follicle naevus: report of a case and review of the literature.

    We report a unique case of a congenital keratinocytic naevus associated with severe alopecia, onychodysplasia and palmoplantar involvement in a 13-year-old girl. The lesions, consisting of scaly, spinous and verrucous papules and plaques, mainly followed Blaschko's lines and have remained unchanged since birth. The predominant histopathological picture was that of a column of parakeratosis overlying the eccrine ostia and hair follicles. This is the first case of a systematized keratinocytic naevus characterized by histopathology of eccrine and hair follicle porokeratosis and a widespread bilateral involvement. This may be a distinct entity to be included in the differential diagnosis of linear, hyperkeratotic dermatoses. We suggest its classification as systematized porokeratotic eccrine and hair follicle naevus.
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ranking = 0.00051626845798147
keywords = dominant
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4/40. Unilateral lentiginosis with nevus depigmentosus on the other side.

    A transmittance of unilateral hypomelanosis in 4 generations and the co-occurrence of unilateral lentigenosis in the youngest family member are reported. It can be explained by paradominant inheritance and the twin-spot theory.
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ranking = 0.00051626845798147
keywords = dominant
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5/40. Epileptic disorder as the first neurologic manifestation of blue rubber bleb nevus syndrome.

    Blue rubber bleb nevus syndrome is an uncommon neurocutaneous disorder characterized by distinctive vascular malformations on the body surface. vascular malformations of internal organs (typically the gastrointestinal tract) are also frequently present. However, malformations of the central nervous system have only rarely been described. We report a case of blue rubber bleb nevus syndrome in a 5-month-old boy with cutaneous manifestations characteristic of this process present from birth and multiple cerebral angiomas detected by magnetic resonance imaging. At age 1(1/2) months, the patient showed myoclonic seizures and complex partial seizures that were refractory to various antiepileptic regimens. At age 5 months, electroencephalograms (EEGs) showed continuous generalized slow spike-waves, predominantly in the right temporal region; however, EEGs normalized after induction of coma with intravenous midazolam. At age 13 months, the patient suffered from occasional seizures and slightly retarded psychomotor development. epilepsy is rare in this syndrome but as in other neurocutaneous syndromes (e.g., sturge-weber syndrome) can compromise psychomotor development; thus, every effort should be made to control seizures.
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ranking = 0.00051626845798147
keywords = dominant
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6/40. Acantholytic dyskeratotic naevi following Blaschko's lines: a mosaic form of Darier's disease.

    Darier's disease (DD) is an autosomal-dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Several patients with unilateral, linear, 'zosteriform' or localized lesions have been reported. We report three cases of DD in a localized pattern corresponding to mosaicism type 1 according to Happle's classification and review the literature about the genetic cause of DD and DD in a 'zosteriform' pattern.
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ranking = 0.00051626845798147
keywords = dominant
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7/40. Linear sebaceous naevus syndrome and resistant rickets.

    The association between vitamin-D-resistant rickets and linear sebaceous naevus syndrome is extremely rare. Only eight cases have been described in the English literature and in none were the skeletal aspects addressed. We present three new cases and describe the musculoskeletal features. The details and outcome of surgery for correction of the deformities are discussed. The disturbances of metabolism of vitamin d and the effects of pharmacological treatment are also described.
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ranking = 0.625
keywords = rickets
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8/40. A novel mutation in the keratin 4 gene causing white sponge naevus.

    BACKGROUND: White sponge naevus (WSN) is a rare, autosomal dominant disorder that predominantly affects noncornified stratified squamous epithelia, most commonly the buccal mucosa. Clinically, WSN manifests as thickened spongy mucosa with a white opalescent tint in the mouth and may be confused with other disorders that cause white lesions on oral mucosa. Recent studies have identified pathogenic mutations in KRT4 and KRT13, the genes encoding mucosa-specific keratins, in WSN. OBJECTIVES: To search for possible mutations in KRT4 and KRT13. methods: We report a case of WSN in a young man who presented with diffuse irregular whitish plaques involving the buccal and gingival mucosae and the tongue. Results Pathologically, the affected mucosa showed epithelial thickening, parakeratosis and extensive vacuolization of the suprabasal keratinocytes. mutation analysis revealed a heterozygous missense mutation 1345G-->A in KRT4, predicting an amino acid change, E449K, in the 2B domain of the K4 polypeptide. CONCLUSIONS: We report the first mutation analysis of a Taiwanese patient with WSN. Potentially this novel mutation could disrupt the stability of keratin filaments and result in WSN.
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ranking = 0.0010325369159629
keywords = dominant
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9/40. Left-sided child syndrome caused by a nonsense mutation in the NSDHL gene.

    Congenital hemidysplasia with ichthyosiform nevus and limb defects (child) syndrome is a rare X-linked dominant malformation syndrome characterized by unilaterally distributed ichthyosiform nevi, often sharply delimited at the midline, and ipsilateral limb defects. At least two-thirds of cases demonstrate involvement of the right side. Mutations in an essential enzyme of cholesterol biosynthesis, nad(P)H steroid dehydrogenase-like [NSDHL], have been reported in five unrelated patients with right-sided child syndrome and in a sixth patient with bilaterally, symmetric nevi and mild skeletal anomalies, but not with child syndrome as originally defined. Although all of the molecularly diagnosed cases with the child phenotype to date have had right-sided disease, we report here a novel nonsense mutation (E151X) of NSDHL in an infant with left-sided child syndrome. This result demonstrates that both right- and left-sided child syndrome can be caused by mutations in the same gene.
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ranking = 0.00051626845798147
keywords = dominant
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10/40. Aggressive management of orbital meningeal melanocytoma.

    OBJECTIVE: Meningeal melanocytoma generally occurs in the posterior fossa. Orbital manifestation is rarely encountered. methods: A thirty-five year-old man presented with progressive proptosis of his right eye. Computed tomography (CT) and magnetic resonance imaging (MRI) of the brain showed an expansive intraconal mass lesion occupying the superior orbital compartment, the entire orbital apex, and the optic foramen. Histological analysis and Immunohistochemical staining for S-100 and HMB-45 monoclonal antibodies confirmed melanocytoma. FINDINGS: Microsurgical removal was accomplished through a fronto-orbital craniotomy. Chemotherapy and irradiation followed the initial intervention. The patient returned for follow up two years after surgery, complaining of headache and right visual loss. A subfrontal tumor with massive edema was found on follow up CT scan. INTERPRETATION: Meningeal melanocytomas are rare benign pigmented tumors of the central nervous system. They are predominant in the posterior fossa and spinal cord and frequently mistaken for melanomas, especially on frozen sections. Orbital presentation is rare. The natural history is poorly defined.
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ranking = 0.00051626845798147
keywords = dominant
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