Pápulas eritematosas en el escote / Erythematous Papules on the Upper Chest Wall

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Liquen nitidus perforante de localización atípica / Perforating Lichen Nitidus on an Atypical Site

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Phenotypic variability in familial prion diseases due to the D178N mutation.

BACKGROUND: Between January 1993 and December 2003, 19 patients with familial prion diseases due to the D178N mutation were referred to the regional epidemiological registry for spongiform encephalopathies in the Basque Country in Spain, a small community of some 2,100,000 inhabitants. METHODS: Ten further patients belonging to the same pedigrees were retrospectively ascertained through neurological or neuropathological records. In four of the patients, the diagnosis was confirmed by analysing DNA obtained from paraffin blocks. In this article, we report on the clinical, genetic, and pathological features of the 23 patients carrying the D178N mutation confirmed by genetic molecular analysis. Haplotyping studies suggest a founder effect among Basque born families, explaining in part this unusually high incidence of the D178N mutation in a small community. Only two patients (8%) lack familial antecedents. RESULTS: We have observed a phenotypic variability even among homozygous 129MM patients. Our findings challenge the currently accepted belief that MM homozygosity in codon 129 is always related to a fatal familial insomnia (FFI) phenotype. Indeed, seven out of 17 patients with a 129MM genotype in this series presented with a Creutzfeldt-Jakob disease (CJD) clinicopathological picture. CONCLUSIONS: The considerable clinical and pathological overlapping observed among homozygous 129MM patients favours the view that FFI and CJD178 are the extremes of a spectrum rather than two discrete and separate entities. Other genetic or environmental factors apart from the polymorphism in codon 129 may play a role in determining the phenotypic expression of the D178N mutation in the PRNP gene.

Cutaneous pseudolymphoma in association with molluscum contagiosum.

Cutaneous pseudolymphomas have been defined as benign lymphocytic infiltrates of the skin that simulate cutaneous lymphoma clinically or histologically. The authors report on a 2-year-old boy with a lesion of molluscum contagiosum in which the inflammatory infiltrate that surrounded a cystlike structure containing molluscum bodies consisted of atypical hyperchromatic mononuclear cells with abundant mitotic figures, some of them atypical. Immunohistochemical investigation demonstrated that the infiltrate was predominantly composed of T lymphocytes. A previous report documented pseudoleukemia cutis associated with molluscum contagiosum, and this report expands the spectrum of histopathologic pseudomalignancies that may be seen in lesions of molluscum contagiosum.

Poncet's disease and papulonecrotic tuberculid in a patient infected with the human immunodeficiency virus.

We report the case of a 27-year-old patient with the human immunodeficiency virus (HIV) infection who presented with a 2-week history of crops of painful, red papules over the trunk and extremities, together with a sterile, symmetric polyarthritis involving the small and large joints. Histologic study of a skin biopsy specimen demonstrated features of papulonecrotic tuberculid. Analytical and microbiologic studies ruled out tuberculous infection. Both the synovial and the skin processes were considered to be an immune response secondary to Mycobacterium tuberculosis infection. Specific treatment was established, and there was marked improvement in both the skin and joint symptoms. This case illustrates the complex relationship between the host and the HIV, suggesting an immune dysregulation cause for both the synovial and the skin lesions.

[Cerebral hemorrhage in Sneddon syndrome]. / Hemorragia cerebral en el síndrome de Sneddon.

INTRODUCTION: Sneddon syndrome is the association of livedo retricularis and cerebrovascular lesions. It is a vasculopathy of vessels of small and medium calibre which affects young people and is of unknown origin. It is often associated with arterial hypertension and repeated ischemic cerebrovascular accidents which lead to intellectual deterioration. CLINICAL CASE: We describe a 49 year old man who, from the age of 23, had had repeated transient or established episodes compatible with ischemic cerebrovascular accidents. These were followed by various neurological sequelae and by intellectual deterioration. Finally he died of a cerebral hemorrhage whilst on anticoagulant treatment with Synthron. We show the neuroimaging findings (CT, MR and angiography) and the neuropathological studies (cerebral hemorrhage, fibrosis of the intima of the vessels of the circle of Willis, absence of inflammation, bilateral unsymmetrical leukoencephalopathy of the cerebral hemispheres and multiple cortical infarcts). CONCLUSION: We wish to draw attention to the occurrence of this complication, its possible relationship to the vasculopathy mentioned, bursting of one of the arteries of the revascularization complex, arterial hypertension or anticoagulant treatment, and also to add one more case to the few described as having hemorrhage and neuropathology in Sneddon syndrome.

[Cerebrotendinous xanthomatosis: utility of nuclear magnetic resonance image in the follow-up and response to treatment]. / Xantomatosis cerebrotendinosa: utilidad de la resonancia nuclear magnética en el seguimiento y respuesta al tratamiento.

INTRODUCTION: Cerebrotendinous xanthomatosis is an inherited autosomal recessive lipid storage disease. Clinical features include tendon xanthomas, premature cataracts and progressive neurologic dysfunctions. Substantial elevation of serum cholestanol and urinary bile alcohols and their precursors establishes the diagnosis. Magnetic resonance image (MRI) is useful for diagnosis of cerebral and tendinous lesions. Treatment with chanodeoxycholic acid (CDCA) has been reported to correct biochemical abnormalities and to arrest and possibility to reverse the progression of the neurologic symptoms in some patients. CLINICAL CASE: We present the case of a 34-year-old male suffering from ataxia and enlargement of both Achilles tendons suggestive of cerebrotendinous xanthomatosis. The findings of elevated serum cholestanol and urinary bile alcohols confirmed clinical suspicious. Cranial and tendinous MRI evidenced cerebral, cerebellar, medullar and tendinous lesions. The patient received treatment with CDCA for 42 months (750 mg/day), with improvement in neurologic symptoms, correction of analytical parameters and cerebellar and medullar lesions at MRI. CONCLUSION: In cerebrotendinous xanthomatosis, treatment with CDCA reduces serum cholestanol and arrest neurologic symptoms progression. In accordance with clinical evolution and analytical normalization, we point out he utility of MRI in the surveillance and response to treatment with CDCA.

[Multiple clustered histiocytofibroma. Apropos of a case with immunohistochemical study]. / Histiocytofibromes multiples groupés. A propos d'un cas avec étude immunohistochimique.

Multiple clustered dermatofibromas constitute an uncommon entity, of which we have collected seven cases in the literature. We observed the case of a 4-year-old girl, who had dermatofibromas confluent in a central plaque of fibrous aspect, located in the lumbar region. The immunohistochemical study showed positive staining for Factor XIIIa antibody, confirming its origin in the dermal dendrocyte.

[A primary epithelioid hemangioendothelioma localized in the pulmonary valve]. / Hemangioendotelioma epitelioide primario localizado en la válvula pulmonar.

A case of epithelioid haemangioendothelioma sited at pulmonary valve, with an excrescence growing invading pulmonary artery troncus and its principal branches, in a 56-year-old woman is reported. The evolutive behavior simulated some clinical situations which made difficult the diagnosis: a mild-moderate pulmonary stenosis, a general syndrome, and, finally, an acute pulmonary thromboembolism that carried to an aggressive management which conducted to the entity diagnosis.

[Spongiform encephalopathy and multisystemic degeneration]. / Encefalopatía espongiforme y degeneración multisistémica.

Onset of a neurological disease was coincidental in two members of a family. The mother died at the age of 57 and her daughter at the age of 27 years. Clinically the disease was manifested by cerebellar ataxia, visual disturbances, dystonic movements and intellectual impairment which appeared very later in the course of the disease in the younger patient. Myoclonus was only observed in the mother. The EEG examination revealed non-specific abnormalities. CT scans disclosed severe cerebellar atrophy and reduced size of the pons in the daughter. The duration of the disease was 7 months in the mother and 3 years in her daughter. The neuropathological examination showed degeneration of the thalamus, substantia nigra and inferior olives, together with loss of Purkinje cells and axonal torpedos in the granular layer of the mother. Olivopontocerebellar atrophy, atrophy of the thalamus and substantia nigra, associated to typical spongiform encephalopathy of the cerebral cortex, amygdaloid complex and striatum occurred in the daughter. These observations let us to comment whether multisystemic atrophies may be fortuitously associated to different prion-induced encephalopathies, or may be found in the context of spongiform encephalopathies.

[Pellagroid encephalopathy in chronic alcoholism. Clinicopathological study (author's transl)]. / Encefalopatía pelagroide en el contexto del alcoholismo crónico. Estudio clinicopatológico.

Pathological findings from two patients with clinical symptoms of diffuse encephalopathy who died due to a bronchopneumonia are studied. Postmortem examination of the central nervous system revealed neuronal changes which suggested the diagnosis of pellagroid encephalopathy. The differential diagnosis between several diseases characterized by encephalopathy, alcohol ingestion and malnutrition are discussed (chronic alcoholism, acquired hepatocerebral degeneration, Marchiafava-Bignami's syndrome, Morel's lamilar sclerosis, Wernicke-Korsakoff's syndrome and pellagroid encephalopathy). Alcoholic encephalopathy should be considered a medical emergency, which requires early correction of the basal parameters and prompt administration of thiamin and nicotinamide-nicotinic acid in doses of 500 mg per day i.v. followed by 200-300 mg per day of niacinamide by mouth.