Biomedical subjects
Publications and source records attributed to M Lomuto.
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A patient presenting with the findings of Acromegaloid Facial Appearance (AFA) syndrome is reported. This case also shows pericardial effusion and skin lesions that both enlarge the spectrum of the phenotype and lump AFA syndrome with another proposed distinct condition [Irvine et al., (1996) J med Genet 33:972-974].
The extent of extrahepatic hepatitis C virus (HCV) replication seems to be low-level and confined to cells of hematopoietic lineage. However, given the spectrum of extrahepatic manifestations associated with HCV, several tissues other than the liver have been suggested as targets of HCV replication and damage. The presence and level of HCV RNA were examined in 19 skin tissue samples from patients chronically infected with HCV and referred for lichen ruber planus (n = 11) or cutaneous vasculitis associated with mixed cryoglobulinemia (n = 8). Serum HCV RNA was quantitated and genotyped by assays that are available commercially. Tissue HCV RNA of genomic- and minus-strand polarity was titrated by a strand-specific semiquantitative RT-PCR. Low titers of genomic-strand HCV RNA were found in three skin specimens from patients with cutaneous vasculitis due to mixed cryoglobulinemia, but in none with lichen ruber planus. The replication intermediate HCV RNA was not detected in any of the skin tissues examined, independent of the serum HCV RNA level or genotype. It is concluded that the occurrence of cutaneous vasculitis and lichen ruber planus in chronic hepatitis C patients is unlikely to be due to HCV replication in the skin.
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The onset of linear IgA bullous dermatosis (LABD) is generally spontaneous, but a number of cases of LABD have been reported either following drug exposure or in association with malignancies. We describe a patient who developed a vesicular eruption shortly after an irritant dermatitis caused by the contact with a detergent containing sodium hypochlorite. Direct immunofluorescence revealed linear deposits of IgA and C3 in the epidermal basement membrane. The patient's serum contained IgA that immunoblotted a 180-kD polypeptide in extracts of human keratinocytes. The patient responded promptly to therapy with dapsone. We suggest a possible pathogenetic relationship between the chemical dermatitis and LABD in this patient.
BACKGROUND: Nevus of Ota is a melanotic pigmentary disorder ("dermal melanocytosis"), mostly congenital or acquired, involving the skin innervated by the first and the second branch of the trigeminal nerve, hence its descriptive label of "nevus fuscus coerulaeus ophthalmic and maxillaris". In more than half of patients this condition is associated with "ocular melanocytosis" ("melanosis oculi") involving the conjunctiva, the sclera, the uveal tract and possibly the optic nerve. In some cases a condition of "orbital melanocytosis" with involvement of orbital fat and periosteum by dendritic melanocytes is on record as well as in some other patients an analogous condition of "leptomeningeal melanocytosis" is present. At histology tissues from the above sites are seen infiltrated by dendritic melanocytes which can vary in number from so scarce up to so numerous that a diagnosis of a blue nevus of the common type is warranted. Sometimes the finding of a variously pigmented typical cellular blue nevus in the skin and alternatively that of heavily pigmented melanocytoma in the eye ("nevus magnocellularis") or in the meninges (so-called "melanotic meningioma") are respectively observed. MATERIALS AND METHODS: A case of cellular blue nevus with histologically uncertain malignant potential in a nevus of Ota of 30 years duration in a white female patient aged 59 is described. The lesion which was surgically totally removed grossly appeared nodular shaped and 2 cm sized. Histologically it consisted of a fairly well-circumscribed proliferation of melanocytic spindle-shaped cells growing in a vaguely fascicular pattern. On the basis of random nuclear atypicalities and pleomorphism and additionally by virtue of the presence of a few scattered mitoses (one of which was atypical) but in absence of frank necrosis a diagnosis of unpredictable biologic behaviour seemed to be warranted. The patient was closely followed-up but no adjunctive therapy given. Four years after the excision and diagnosis no local recurrence or distant metastasis has been discovered. A computerized search of previously recorded cases of melanomas in nevus of Ota was made. CONCLUSIONS: Forty-eight cases of malignant melanomas complicating this clinico-pathological setting are on record, mostly in the uveal tract, followed by locations in central nervous system, skin, and retro-orbital fatty tissue. Melanomas arising in nevus of Ota tend to be low grade lesions that do infiltrate locally but rarely metastasize. The importance of a closely dermatological and ophthalmic surveillance of patients with nevus of Ota is emphasized.
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NERDS is an eosinophilic disorder recently described by Butterfield and characterized by an association of nodules, eosinophilia, rheumatism, dermatitis and swelling. We describe an additional case, the third, of this new eosinophilic syndrome. The cardinal features included joint and cutaneous manifestations with prominent para-articular nodules and rheumatism, xerosis, recurrent urticarial eruption with angioedema associated with tissue and peripheral blood eosinophilia. A drug-induced (diclofenac) allergic rash and lymphadenopathy appeared during the course of the illness. Persistent leukocytosis with a maximum of 65% of eosinophils, mostly exhibiting the hypodense phenotype (activation index), was always present. During the acute phase of the disease, flow-cytometric analysis of blood and bone marrow revealed proliferation of activated CD4+/OKDR+ T helper cells and CD25+/OKDR+ eosinophils.
Between 1981 and 1991, eleven infants (ranging in age from 2 to 9 months) were hospitalized in our department for evaluation of microscopically verified scabies infestations. Six presented signs of Norwegian scabies. All of the latter infants had been treated (prior to the scabies infestation) for long periods with topical steroids, in most cases for lesions suggestive of atopic dermatitis. We believe that the occurrence of the Norwegian form in these newborns was due to localized steroid-induced suppression of the normal immune response.
BACKGROUND: Our observation of familial cases of fixed drug eruption (FDE) prompted us to consider a genetic predisposition to this disease. OBJECTIVE: Our purpose was to determine whether there is any association between FDE and any of the major histocompatibility complex class I or II alleles. METHODS: HLA class I and II typing was performed by lymphocytotoxicity assay in 36 unrelated patients with FDE. RESULTS: Significantly higher (p < 0.0001) frequencies of the B22 and Cw1 antigens were found in the 36 patients with FDE. CONCLUSION: Our data are the first to suggest a genetic predisposition to FDE.
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Fixed drug eruptions following the use of pyrazolone derivatives occurred in 4 members of the same family: a 12-year-old girl, her grandmother, and two of her great aunts. Although the pathophysiologic events leading to this type of reaction are unknown, these cases of familial occurrence suggest that genetic predisposition might be an important causal factor.