41 research outputs found

    Molecular Dermatopathology in Malignant Melanoma

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    At present, immunohistochemistry is taken for granted in the establishment of malignant melanoma (MM) diagnosis. In recent years, molecular diagnosis in dermatopathology has benefited from a vast array of advances in the fields of genomics and proteomics. Sensitive techniques are available for detecting specific DNA and RNA sequences by molecular hybridization. This paper intends to update methods of molecular cytogenetics available as diagnostic adjuncts in the field of MM. Cytogenetics has highlighted the pathogenesis of atypical melanocytic neoplasms with emphasis on the activation of the mitogen-activated protein kinase (MAPK) signalling pathway during the initiation step of the neoplasms. 20 to 40% of MM families have mutations in the tumour suppressor gene p16 or CDKN2A. In addition, somatic mutations in p16, p53, BRAF, and cKIT are present in MM. Genome-wide scan analyses on MM indicate positive associations for genes involved in melanocytic naevi, but MM is likely caused by a variety of common low-penetrance genes. Molecular dermatopathology is expanding, and its use in the assessment of melanocytic neoplasms appears to be promising in the fields of research and diagnosis. Molecular dermatopathology will probably make its way to an increased number of diagnostic laboratories. The expected benefit should improve the patient management. This evolution points to a need for evolution in the training requirements and role of dermatopathologists

    Dermatitis herpetiforme

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    ResumenLa dermatitis herpetiforme es una enfermedad autoinmune ampollosa subepidérmica caracterizada por una erupción pápulo-vesiculosa pruriginosa asociada a depósitos granulares de IgA a nivel de la dermis papilar detectados por IFD. Esta enfermedad en piel se encuentra asociada a una enteropatía sensible al gluten la cual es generalmente asintomática.[Armand B, Ávila MY, Pierard GE, Arrese JE. Dermatitis herpetiforme. MedUNAB 2002; 5(14):75-82].Palabras clave: Dermatitis herpetiforme, IgA granular, dapsona, ampollas subepidérmicas

    Angioqueratoma circunscrito. Informe de un caso y revisión de la literatura

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    ResumenEl angioqueratoma circunscrito es el más raro de los angioqueratomas. Aperece desde el nacimiento o en las primeras dos décadas de la vida y es más común en mujeres. Generalmente está localizado en piernas y un 10% en miembros superiores, es asintomático. Existen diferencias de opinión en cuanto si es una neoplasia o solamente una dilatación de vasos sanguíneos ya existentes. el tratamiento depende del tamaño, profundidad y extención de la lesión. Se debe considerar la extirpación quirúrgica en la medida que sea posible. Se describe el caso de un niño de 10 años con cuadro clínico de angioqueratoma circunscrito tratado con crioterapia, con respuesta parcial de las lesiones.[Ávila M, Vásquez AJ, Pierard EG, Arrese JE, Uribe CJ. Angioqueratoma circunscrito. Informe de un caso y revisión de la literatura. MedUNAB 2002;5(14):118-120].Palabras clave: Angioqueratoma, neoplasia de piel, piel

    Circumscribed angiokeratoma. Report of a case and review of the literature

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    El angioqueratoma circunscrito es el más raro de los angioqueratomas. Aparece desde el nacimiento en las primeras dos décadas de la vida y es más común en mujeres. Generalmente está localizado en piernas y sólo un 10% en miembros superiores, es asintomático. Existen diferencias de opinión encuanto si es una neoplasia o solamente una dilatación de vasos sanguíneos ya existentes. El tratamiento depende del tamaño, profundidad y extensión de la lesión. Se debe considerar la extirpación quirúrgica en la medida en que sea posible. Se describe el caso de un niño de 10 años con cuadro clínico de angioqueratoma circunscrito tratado con crioterapia, con respuesta parcial de las lesiones.[Ávila M, Vásquez AJ, Pierard GE, Arrese JE, Uribe CJ. Angioqueratoma circunscrito. Informe de uncaso y revisión de la literaturaCircumscribed angiokeratoma is the rarest of the angiokeratomas. It appears from birth or in the first two decades of life and is more common in women. It is generally located in the legs and only 10% in the upper limbs, it is asymptomatic. There are differences of opinion as to whether it is a neoplasm or just a dilatation of existing blood vessels. Treatment depends on the size, depth, and extent of the lesion. Surgical removal should be considered whenever possible. The case of a 10-year-old boy with a clinical picture of circumscribed angiokeratoma treated with cryotherapy, with partial response of the lesions, is described. [Ávila M, Vásquez AJ, Pierard GE, Arrese JE, Uribe CJ. Circumscribed angiokeratoma. Report of a case and review of the literatur

    Anthrax and Carbuncle

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    peer reviewedAnthrax is a name given in French language to two distinct infectious diseases. One corresponds to carbuncle which is a collection of boils. The other one corresponds to the English term anthrax. This condition has a clinical presentation and an outcome that vary according to the inoculation site being cutaneous, pulmonary or digestive, and to the bacterial and toxin spread in the body

    Scytalidium Dimidiatum Melanonychia and Scaly Plantar Skin in Four Patients from the Maghreb: Imported Disease or Outbreak in a Belgian Mosque?

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    Scytalidium dimidiatum is a geophilic dematiaceous, non-dermatophyte mould that can become a pathogen for plants and humans particularly in tropical and subtropical regions. We report 4 cases of S. dimidiatum onychomycosis presenting clinically as thickened and dark toenails. The skin of the soles was scaly. The time and location of the contaminations were uncertain. Indeed, the patients were ancient immigrants from the Maghreb to Belgium. They were also regularly travelling to their countries of origin. They were also often barefoot in the same Belgian mosque. The disease was unresponsive to current oral antifungal treatments

    Severe paroxysmal drug eruptions.

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    peer reviewedSome drug reactions showing cutaneous expression exhibit a paroxysmal course. These diseases encompass the toxic epidermal necrolysis, the drug hypersensitivity syndrome, and the acute generalized exanthematic pustulosis. These syndromes are associated with dismal outcome. They represent medical emergencies needing hospitalization in specialized care units

    Cystic lesion of the parotid following drug-induced toxic epidermal necrolysis (Lyell's syndrome).

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    A 32-year-old woman developed a unilateral cyst of the duct of parotid gland 4 months after severe oral involvement of drug-induced toxic epidermal necrolysis (TEN). The pathomechanism leading to the TEN epidermal destruction had presumably involved the salivary epithelium as well, leading to the development of the cystic lesion. The patient had low serum lipase levels, but high serum amylase levels at the time of TEN. These serological markers could represent a clue for the risk of developing cystic lesions of the large salivary glands following TEN

    Cutaneous Side Effects of Interferons

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    peer reviewedThe alpha, beta and gamma recombinant interferons are indicated in a growing spectrum of therapeutic indications. Some unwanted side effects occur on the skin. The main clinical presentations include vesiculo-bullous sometimes infiltrated dermatitis, vasculitis, necrosis, ulceration and alopecia. Exacerbation of dermatoses such as psoriasis is also possible
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