64 research outputs found
Leg ulcer in Werner syndrome (adult progeria): a case report
Werner syndrome (WS; MIM#277700) or adult progeria, is a rare disease, associated with mutations of a single gene (RECQL2 or WRN), located on chromosome 8 (8p12). It codes a DNA-helicase, whose defects cause genomic instability. The highest incidences are reported in Japan and Sardinia (Italy). On this major island of the Mediterranean Basin, the WS cases have been observed in the northern areas. The authors describe the apparently first case reported in southern Sardinia, a 51-year-old woman, who was born in and resides in the province of Cagliari. She presented with a 9-year history of an intractable leg ulcer and other characteristic symptoms, including "bird-like" face, high-pitched voice, premature greying, short stature, abdominal obesity in contrast with thin body type, scleroderma-like legs, decreased muscle mass, diabetes, atherosclerosis, and premature menopause. A specialized genetic Institute of Research (IRCCS-IDI, Rome) confirmed the clinical diagnosis. There is no cure or specific treatment and patients must be periodically screened for an increased risk of cardiovascular and cerebrovascular disease and malignancies. Among the many findings, leg ulcers significantly affect the patient's quality of life. This problem may send the patient to the dermatologist, who finally suspects the diagnosis. Poor response to medical treatment may require aggressive repeated surgery, with poor or temporary results
Xanthomatous Hypophysitis Mimicking a Pituitary Adenoma: Case Report and Review of the Literature
Background. Hypophysitis is an inflammatory disease of the pituitary gland that may mimic pituitary tumors clinically and radiologically. Case Description. We report a case of a xanthomatous hypophysitis initially diagnosed as pituitary adenoma. A 31-year-old woman presented with headache, diabetes insipidus, and amenorrhea. A head CT scan showed no intrasellar changes, while an MRI scan showed a sellar cystic mass. An endocrinological work up revealed mild hypocortisolism and diabetes insipidus (DI). Transsphenoidal surgery was performed. The intraoperative histological examination suggested a pituitary adenoma. The removed tissue showed central necrosis surrounded by accumulation of foamy cells and xanthomatous epithelioid cells. The patient made an uneventful postoperative recovery, Nevertheless, DI persisted and the adenohypophysis hypofunction did not recover. Conclusion. We describe an unusual inflammatory lesion of the pituitary gland mimicking an adenoma. A high level of clinical suspicion of inflammatory disorders is necessary for correct diagnosis and optimal management
Characterization of Notch1 Antibodies That Inhibit Signaling of Both Normal and Mutated Notch1 Receptors
Notch receptors normally play a key role in guiding a variety of cell fate decisions during development and differentiation of metazoan organisms. On the other hand, dysregulation of Notch1 signaling is associated with many different types of cancer as well as tumor angiogenesis, making Notch1 a potential therapeutic target.Here we report the in vitro activities of inhibitory Notch1 monoclonal antibodies derived from cell-based and solid-phase screening of a phage display library. Two classes of antibodies were found, one directed against the EGF-repeat region that encompasses the ligand-binding domain (LBD), and the second directed against the activation switch of the receptor, the Notch negative regulatory region (NRR). The antibodies are selective for Notch1, inhibiting Jag2-dependent signaling by Notch1 but not by Notch 2 and 3 in reporter gene assays, with EC(50) values as low as 5+/-3 nM and 0.13+/-0.09 nM for the LBD and NRR antibodies, respectively, and fail to recognize Notch4. While more potent, NRR antibodies are incomplete antagonists of Notch1 signaling. The antagonistic activity of LBD, but not NRR, antibodies is strongly dependent on the activating ligand. Both LBD and NRR antibodies bind to Notch1 on human tumor cell lines and inhibit the expression of sentinel Notch target genes, including HES1, HES5, and DTX1. NRR antibodies also strongly inhibit ligand-independent signaling in heterologous cells transiently expressing Notch1 receptors with diverse NRR "class I" point mutations, the most common type of mutation found in human T-cell acute lymphoblastic leukemia (T-ALL). In contrast, NRR antibodies failed to antagonize Notch1 receptors bearing rare "class II" or "class III" mutations, in which amino acid insertions generate a duplicated or constitutively sensitive metalloprotease cleavage site. Signaling in T-ALL cell lines bearing class I mutations is partially refractory to inhibitory antibodies as compared to cell-penetrating gamma-secretase inhibitors.Antibodies that compete with Notch1 ligand binding or that bind to the negative regulatory region can act as potent inhibitors of Notch1 signaling. These antibodies may have clinical utility for conditions in which inhibition of signaling by wild-type Notch1 is desired, but are likely to be of limited value for treatment of T-ALLs associated with aberrant Notch1 activation
A 20-year survey of tinea faciei
Tinea faciei is an uncommon dermatophytosis affecting the glabrous skin of the face. Between 1988 and 2007 at the Dermatology Department of Cagliari University, 107 cases of tinea faciei have been diagnosed, involving 72 females and 35 males, aged 2-72 years. Incidence peaks were observed between 6 and 15 years (48.59%) and between 36 and 45 years (17.76%). Males below and females above 15 years of age were the most affected. In 61 patients (57.1%), typical forms of tinea faciei were observed, whereas in 46 (42.9%), atypical forms were observed, mainly mimicking discoid lupus erythematosus (nine cases), and polymorphous light eruption (eight cases). Typical cases were present in younger patients, aged between 2 and 15 years, while atypical forms were distributed in any of the decades, but mostly between 36 and 72 years. Of the 46 cases of atypical presentation, 33 were females. The isolated dermatophytes were Microsporum canis (63 cases), Trichophyton rubrum (24 cases) and T. mentagrophytes var. mentagrophytes (20 cases). Seven males and two females aged 4-10 years were also affected by tinea capitis and eight patients (three males and five females) of various ages by tinea corporis. Eleven patients (two males and nine females) aged >35 years were affected by onychomycosis. All patients recovered after local and/or systemic antifungal therapy, without relapse or side effects
Tinea faciei due to microsporum canis in children: a survey of 46 cases in the District of Cagliari (Italy)
Dermatophytoses are frequent in children, but involvement of the facial skin has peculiar aspects that should be considered a separate entity: tinea faciei. Microsporum canis infection in tinea faciei has not been widely documented. To review cases of tinea faciei due to M. canis in children diagnosed at the Dermatology Clinic, University of Cagliari. Between 1990 and 2009, all children with dermatophyte infections of the facial skin were recruited for the study after parental consent. Diagnosis was made through direct microscopic and cultural examination. Age, sex, clinical form, illness duration, identified dermatophyte, source of infection, and treatment were recorded. Forty-six cases of tinea faciei due to M. canis in children aged 11 months to 15 years (29 male/17 female) were diagnosed. In 42 (91.3%) children, the illness was the result of contact with pets, and 4 (8.7%) cases resulted from contact with children affected by tinea capitis due to M. canis. Clinical manifestations were typical ringworm in 34 (74%) patients, whereas in 12 (26%) cases, atypical forms mimicking atopic dermatitis, impetigo, lupus erythematosus, and periorificial dermatitis were observed. In 18 (39%) cases, involvement of the vellus hair follicle was documented as ectothrix invasion. Topical or systemic antifungal therapy was effective in all patients. Tinea faciei shows a complex spectrum of differential diagnosis and age-related variations with respect to other superficial dermatophytosis. M. canis is the main organism responsible in children residing in Cagliari, capitol city of Sardinia, Italy. Close collaboration with veterinary and educational programs within infant communities are required for adequate prevention
Dermatophyte infections mimicking other skin diseases: a 154-person case survey of tinea atypica in the district of Cagliari (Italy)
Background. Although usually simple, the diagnosis of dermatophyte infection is sometimes neglected. An observational study has been realized to evaluate the role of corticosteroid exposure (tinea incognito) and of other primary characteristics of the dermatophytosis that from onset mimic other diseases and mislead an unexperienced physician. Materials and methods Between 1990 and 2009, all cases of atypical dermatophytosis mimicking other skin diseases were collected from the more general number of dermatophyte infections diagnosed at the Dermatology Department of Cagliari University, Italy. Results One-hundred and fifty-four cases (71 male/83 female, 2-81years old) were studied, with a median of 7cases/year. The most observed clinical forms were those mimicking impetigo, eczematous dermatitis, lupus erythematosus, polymorphous light eruption, psoriasis, and rosacea. The identified dermatophytes were: Microsporum canis (70 cases), Trichophyton rubrum (43 cases), Trichophyton mentagrophytes var. mentagrophytes (29 cases), Trichophyton mentagrophytes var. interdigitale (six cases), Microsporum gypseum (three cases), Epidermophyton floccosum (two cases), and Trichophyton verrucosum (one case). Diagnostic difficulties are discussed, with special attention to the origin of the pathomorphosis. Conclusions In our experience, clinical atypia is not a mere consequence of corticosteroid therapy but present at the very onset of the illness, due to the variable dermatophyte invasive capacity, the site of invasion, physiological individual, and/or acquired condition, such as excessive washing or sun exposure. Therefore, we suggest using the term "tinea atypica" rather than "tinea incognito" to include all forms of dermatophytosis that do not present the classic features for both primary and secondary pathomorphosis
Recommended from our members
Two cases of primary endonasal leishmaniasis in Sardinia (Italy)
Leishmaniasis is an endemic protozoan infection in Sardinia, one of the major islands of the Mediterranean Basin. We report two cases of endonasal primary Leishmaniasis, which is a very rare event in adult men who are immunocompetent, born in, and residents of Sardinia. The diagnosis was confirmed by the presence of intra and extracellular Leishmania amastigotes in the histological smear. Isoenzymatic characterization identified Leishmania infantum zymodeme MON-111 in both cases. Laboratory and instrumental investigations excluded visceral involvement. Treatment with meglumine antimoniate (Glucantim®) intralesional administration, 1ml weekly for 4-5 weeks, led to complete resolution. The unusual location is likely a reflection an uncommon site of inoculation of the protozoa, transmitted by flying vectors. The patients were a shepherd and a farmer, respectively, both professions at high risk of infection because of their habits of sleeping outdoors under trees or in country cottages during spring and summer and exposed to sand fly bites. Although mucosal involvement and infection by Leishmania infantum, a potential cause of visceral leishmaniasis, the Sardinian patients experienced a benign disease course considering mucocutaneous forms described in the New World. Differential diagnosis and early detection are necessary in order to start effective treatment and prevent more serious complications
- …