Search PubMed⌕ Search

Biomedical subjects

T Basarab

Publications and source records attributed to T Basarab.

At least 19 recordsLinked to original sources
PubMed2000

Atypical pigmented lesions following extensive PUVA therapy.

We report a 38-year-old woman with psoriasis who developed multiple atypical lentigines following psoralen photochemotherapy (PUVA). The lentigines first appeared 12 years ago, 3 years after she commenced intermittent PUVA treatment. New lesions continued to develop over the subsequent years with further photochemotherapy. Clinically, the lentigines were strikingly atypical, deeply pigmented, dark brown or black, large stellate macules. Histology of a representative lesion was consistent with a PUVA lentigo and no atypical melanocytes were seen. At present, a link between malignant melanoma and PUVA lentigines has not been established. Instead, limited evidence suggests that PUVA lentigines may be more closely linked with the risk of nonmelanoma skin cancer.

Adult↗
PubMed1999

Melanoma antigen-encoding gene expression in melanocytic naevi and cutaneous malignant melanomas.

Melanoma antigen-encoding (MAGE) genes encode peptides which are expressed by a proportion of malignant melanomas (MMs) and can be recognized in vitro by autologous cytolytic T lymphocytes in a human leucocyte-associated antigen (HLA)-restricted manner. Although expression of MAGE genes has been studied in cutaneous MMs, little is known about their expression in melanocytic naevi. We studied MAGE 1, 2, 3, 4, 6 and 12 gene expression in tissue from 10 benign melanocytic naevi, 14 dysplastic melanocytic naevi, three cutaneous MMs in situ, four primary cutaneous MMs and three distant metastatic MMs. MAGE gene expression was determined with reverse transcription-polymerase chain reaction (PCR) using random hexamers to generate cDNA from total tissue homogenate RNA followed by PCR using intron-spanning, MAGE-specific primer pairs. Controls were cDNA from MAGE-expressing melanoma cell lines. Expression of HLA class 1 was used as a cDNA quality control. MAGE 2, 4, 6 and 12 gene expression was not detected in any of the lesions studied. MAGE 1 and 3 gene expression was also not detected in any of the cases of benign and dysplastic melanocytic naevi and in situ MMs. One of four primary MMs expressed the MAGE 3 gene. Two of three distant metastatic MMs also expressed the MAGE 3 gene and one of these additionally expressed the MAGE 1 gene. Thus, MAGE gene expression appears to be a late event in the evolution of MMs.

Antigens, Neoplasm↗
PubMed1999

Sequence variations in the flavin-containing mono-oxygenase 3 gene (FMO3) in fish odour syndrome.

Trimethylaminuria is inherited recessively as a defect in hepatic N-oxidation of dietary derived trimethylamine (TMA) which causes excess excretion of TMA so that affected individuals have a body odour resembling rotten fish. Flavin-containing mono-oxygenase 3 (FMO3) catalyses TMA oxidation and mutations in the FMO3 gene have recently been shown to underlie trimethylaminuria/fish odour syndrome. We searched for FMO3 mutations in a previously unreported individual with this disorder using polymerase chain reaction of genomic DNA, heteroduplex analysis and direct sequencing of heteroduplex band shifts. We identified a heterozygous missense Pro153-->Leu153 mutation in exon 4. Leu153 has been reported previously as a homozygous mutation in two unrelated siblings with trimethylaminuria and has been shown to result in total loss of FMO3 enzyme activity. In our patient, two further missense mutations were identified on the other FMO3 allele, Val143-->Glu143 and Glu158-->Lys158. Lys158 is known to be a common polymorphism, but has functional significance in reducing enzyme activity by 10%. Glu143 has not been documented previously, but was shown to be a rare polymorphism and may be of further relevance in reducing FMO3 activity. Mutagenesis studies and enzyme assays will be necessary to confirm or refute the potential pathogenic significance of Glu143 in this patient, but the mutation Pro153-->Leu153 appears to be a recurrent cause of this distressing metabolic disorder.

Adult↗
PubMed1999

Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature.

We report a large family with ichthyosis bullosa of Siemens (IBS) including eight affected members spanning three generations. The classical features of the disease were consistently observed with blistering, superficial peeling of the skin, and localized lichenified hyperkeratosis mainly confined to the limbs. Phenotypic variation, however, was also observed with some individuals exhibiting unusual clinical features. Specifically, the index patient was erythrodermic at birth; she subsequently developed a widespread pustular eruption. Erythroderma is classically absent in IBS and pustulation is very unusual. She also had hypertrichosis of the limbs, as did an affected female first cousin. This has not previously been reported in IBS. Electron microscopy showed complex aggregates of keratin in the spinous and granular layers associated, in places, with remarkably little cell lysis. Sequencing of genomic DNA revealed a mutation (E493K) in keratin 2e. A review of the literature on IBS indicates that E493K is the most commonly reported mutation to date and might represent a mutational hotspot for this disease.

Adult↗
PubMed1999

Isoniazid induced pellagra despite pyridoxine supplementation.

Although pellagra is a recognized complication of isoniazid therapy, the diagnosis may be overlooked or delayed--sometimes with life-threatening consequences. We report a case of isoniazid-induced pellagra which occurred despite pyridoxine supplementation. Drug withdrawal and supplementation with niacin led to a rapid and sustained clinical improvement. The possible mechanisms of isoniazid induced pellagra are discussed.

Anti-Inflammatory Agents↗
PubMed1998

The use of immunostaining for bcl-2 and CD34 and the lectin peanut agglutinin in differentiating between basal cell carcinomas and trichoepitheliomas.

Fifteen unequivocal basal cell carcinomas (BCC) and ten unequivocal trichoepitheliomas (TE) were studied using the lectin peanut agglutinin (PNA), and the monoclonal antibodies Q bend 10 and bcl-2 oncoprotein directed against the antigens CD34 and bcl-2, respectively, to see whether these markers could be used to differentiate between the two tumors. Ten percent of TE demonstrated a continuous band-like peritumorous staining with PNA and 80% demonstrated a discontinuous band-like peritumorous staining with PNA, with the comparable figures for BCC being 40% and 20%, respectively. In addition, 40% of BCC showed focal areas of pemphigus-like staining in contrast with only 10% of TE. Using the antibody directed against bcl-2, TE demonstrated weak staining mainly confined to the basal layer of tumor cells in 20% of cases and staining of the cells throughout the tumor in 30% of cases. Similarly, BCC also showed staining of the basal layer of tumor cells in 7% of specimens and staining of cells throughout the tumor mass in 40% of specimens studied. Finally, with the antibody Q bend 10 directed against CD34, staining of the immediate peritumoral spindle-shaped cells was observed in 20% of TE compared with 7% of BCC. Despite reports in the literature, we found that none of these three markers can be reliably used to differentiate between TE and BCC.

Antigens, CD34↗
PubMed1998

Lymphomatoid papulosis in association with mycosis fungoides: a study of 15 cases.

We report clinical findings in 15 patients with lymphomatoid papulosis (LyP) associated with mycosis fungoides (MF). LyP either preceded (n = 4), followed (n = 5) or occurred concurrently with the MF lesions (n = 6). Twenty-eight LyP lesions were classified histologically and analysed further with immunostaining for CD3 and CD30. Five biopsies contained a predominance of type A cells, six biopsies contained a predominance of type B cells. and six were mixed (A + B). However, 11 biopsies contained a population of atypical mononuclear cells with large hyperchromatic nuclei that we have termed indeterminate cells. These cells contained a thin rim of eosinophilic cytoplasm and showed strong CD30 but absent, faint or normal CD3 staining. In seven biopsies from five separate patients these cells represented the predominant cell type and we have termed this the pleomorphic variant of LyP. Analysis of T-cell receptor genes using Southern blot analysis and polymerase chain reaction/single strand conformational polymorphism analysis identified a T-cell clone in six of 16 LyP lesions and nine of 16 MF lesions. In the three patients who had clones in both types of skin lesions, the clones were identical. Only two of 10 blood samples, both of which were from the same patient, had a T-cell clone and none of two lymph nodes showed evidence of a clonal population. To date all patients are alive with a median follow-up of 15 years from the onset of the first lesion. One patient has developed Lin anaplastic large cell lymphoma of the nasopharynx. These data augment the current literature on the association of LyP and MF and suggest that the

Adolescent↗
PubMed1998

Incontinentia pigmenti: variable disease expression within an affected family.

We report a florid case of incontinentia pigmenti in a neonate in which linear vesiculobullous, verrucous and pigmented lesions were present simultaneously at birth. Histology of a vesiculobullous lesion showed vesiculation with numerous eosinophils in the epidermis, and a sparse infiltrate in the dermis with pigmentary incontinence. The mother of our patient described a streaky linear rash on her legs during her own childhood which resolved spontaneously, in addition to partial anodontia, suggesting that she too has the disease, although previously undiagnosed. This emphasises the variable disease expression and the importance of recognising this condition so that patients can be followed up with regard to complications, and genetic counselling can be offered. The issue of prenatal diagnosis is discussed.

Family↗
PubMed1997

Systemic involvement in scleredema of Buschke associated with IgG-kappa paraproteinaemia.

Scleredema is a rare primary cutaneous mucinosis. Systemic involvement is uncommon and histological confirmation is often lacking. We report a case of a 60-year-old man with scleredema and evidence of mucin deposition on biopsies from multiple extracutaneous sites. The bone marrow, nerve, hepatic and salivary gland involvement seen on histology in our patient has not, to our knowledge, been previously reported in this condition.

Bone Marrow↗
PubMed1997

Thalidomide-induced toxic pustuloderma.

We report a case of toxic pustuloderma secondary to thalidomide in a patient with severe nodular prurigo. To our knowledge this is the first reported case. With the increasing use of thalidomide for a variety of dermatological conditions it is clearly important that this rare side-effect now be recognised.

Adult↗
PubMed1996

Ofuji's disease with unusual histological features.

A 20-year-old lady presented with a 3-month history of an itchy eruption affecting her face and trunk. Erythematous annular plaques with follicular papules and pustules at the margins were present on her face consistent with Ofuji's disease. A perifollicular and perivascular eosinophil-rich infiltrate was seen histologically, with infiltration of the follicular epithelium by eosinophils and formation of eosinophilic microabscesses. An unusual feature was the presence of follicular mucinosis. Treatment with dapsone resulted in an improvement in the eruption after 2 weeks. Ofuji's eosinophilic pustular folliculitis is becoming increasingly frequently recognized, and may not be as rare as initial reports suggested. In 1965, Ise and Ofuji reported the case of a Japanese woman who had recurrent episodes of follicular pustules affecting her face and back accompanied by a peripheral eosinophilia. Following this, in 1970 Ofuji et al. reported three further cases and proposed the name eosinophilic pustular folliculitis. Although many of the early cases were in Japanese patients, reports of this disease affecting individuals from Europe and the United States have been increasing.

Adult↗
PubMed1996

HIV-associated eosinophilic folliculitis: case report and review of the literature.

We report human immunodeficiency virus (HIV)-associated eosinophilic folliculitis in a previously well 40-year-old Portuguese lady. This condition, although similar to Ofuji's disease, has distinguishing features which allow the two to be differentiated. To the best of our knowledge, this is the first reported case of HIV-associated eosinophilic folliculitis in a female and in a patient in whom the HIV was heterosexually transmitted. Our patient is also unusual in being, we believe, only the second reported in whom this eruption was the presenting feature of HIV infection.

AIDS-Related Opportunistic Infections↗
PubMed1996

Diagnostic accuracy and appropriateness of general practitioner referrals to a dermatology out-patient clinic.

A study was undertaken of new referrals by GPs to a dermatology clinic in a district general hospital over a 6-month period. Six hundred and eighty-six consecutive referrals to one consultant were analysed for diagnostic accuracy and requirement for referral. Only 47% of referral letters contained the correct diagnosis. Viral warts and psoriasis were best diagnosed (82 and 78%, respectively), but seborrhoeic warts and dermatofibromas caused difficulty (22 and 19%, respectively). Cutaneous malignancy was correctly diagnosed in 45% of referrals, and eczema, the commonest condition referred, in 54% of cases. Sixty-eight percent of referrals required hospital-based facilities for diagnosis (31%) or treatment/management (37%). Twenty-one per cent of patients referred attended for once-only visits, requiring no specialized diagnostic or therapeutic procedures. Such referrals should decrease with improved GP education. Eleven percent of referrals were for minor surgical procedures such as curettage, shave biopsy, or cryotherapy and would become unnecessary if such facilities were available in the community. Our data demonstrate the potential for management of up to one-third of current dermatological referrals within the community by improving education of GPs and providing appropriate facilities within the community. However, over two-thirds of patients required hospital facilities, a finding of considerable relevance to the future location of dermatological services.

Dermatology↗
PubMed1996

Sweet's syndrome in association with non-Hodgkin's lymphoma.

Sweet's syndrome is an acute neutrophilic dermatosis frequently found in association with other conditions, particularly inflammatory and neoplastic disease. We report here a patient who developed the condition 2 years after the diagnosis of non-Hodgkin's lymphoma (NHL), in this case affecting a tonsil, the thirteenth report of such an association. We discuss the diagnosis, investigation and management of Sweet's syndrome in the context of the current case.

Humans↗