Phacomatosis pigmentokeratotica: a case of HRAS mosaicism causing rhabdomyosarcoma.

A 17-year-old male presented with a large sebaceous naevus (SN) comprising part of his right face and scalp and a speckled lentiginous naevus (SLN) on his left trunk, hip, neck and scalp with a checkerboard pattern. His right oral hemimucosa showed extensive papillomatous lesions, which were contiguous with the upper-lip SN lesions. He also showed extracutaneous manifestations including cardiac, musculoskeletal and ocular alterations. Internally, he had developed two primary rhabdomyosarcomas. DNA samples of the SN, SLN, oral papillomatous hyperplasia and both rhabdomyosarcomas were analysed by Sanger sequencing. An HRAS c.37G>C mutation was detected in all of them. Skin and blood DNA were wild-type. Phacomatosis pigmentokeratotica (PPK) is characterized by the association of an SN with a papular naevus spilus and extracutaneous manifestations. Until recently, the aetiopathogenetic hypothesis of didymosis was accepted. However, in 2013 Groesser et al. proved the existence of an activating HRAS mutation as the cause of this syndrome. A higher incidence of cancer has been observed in germline RASopathies. Furthermore, up to 30% of human cancers show dysregulation of the Ras-Raf-MEK-ERK pathways. In our patient, an HRAS mosaic mutation explains not only the cutaneous but also the extracutaneous manifestations. To our knowledge this is the first described case of PPK in which the existence of an HRAS mosaic mutation is the confirmed cause of rhabdomyosarcoma. Furthermore, the HRAS c.37G>C mutation has never been related to any type of rhabdomyosarcoma. Mosaicisms could be underdiagnosed causes of childhood tumours. As dermatologists we stand in a privileged position of being able to detect these alterations.

Utilidad de la ecografía cutánea en el diagnóstico de las complicaciones por materiales de relleno / The Utility of Skin Ultrasound for the Diagnosis of Complications of Tissue Filler Materials

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Molluscum contagiosum gigantes recalcitrantes en pacientes infectados por VIH: respuesta terapeútica a los nuevos fármacos antiretrovirales (antiproteasas) / Recalcitrant giant molluscum contagiosum in HIV-infected patients: terapeutic response in relation with news antiretroviral drugs (antiproteases)

Molluscum contagiosum (MC) es frecuente en los pacientes infectados por VIH. Diversas publicaciones han establecido unas características clinicas frecuentemente atipicas con un curso progresivo y recalcitrante al tratamiento. MC en el paciente inmunocomprometido varía desde pápulas umbilicadas tipicas a grandes placas que pueden ulcerarse.MC gigante (>1cm) han sido descrito como un marcador de importante descenso del número de linfocitos T-helper.Nosotros describimos a dos pacientes infectados por VIH, con MC gigantes en cara y cuello, inmunodeficiencia avanzada y elevada carga viral. Sus lesiones solo se resolvieron con una combinación de quimioterapia antiretroviral que incluyó drogas antiproteasas (AU)

Lichen myxoedematosus associated with human immunodeficiency virus infection--report of two cases and review of the literature.

Lichen myxoedematosus (LM), or papular mucinosis, is an uncommon papular eruption caused by the dermal deposition of mucin. Three clinical forms can be distinguished, namely localised, disseminated (involving more than one site), and generalised LM, the last is called scleromyxoedema, and demonstrates erythema and skin sclerosis. Paraproteinaemia, often consisting of an abnormal IgG with lambda light chains, is usually present in patients with LM. Visceral involvement has also been documented. An association between LM and human immunodeficiency virus (HIV) infection has been reported recently. We now describe two further HIV-positive patients with LM and present a review of the literature regarding this association.

Primary cutaneous extramedullary plasmacytoma secreting lambda IgG.

An adult male was described, who developed a tumour on his left arm, which was diagnosed as a primary cutaneous extramedullary plasmacytoma after histopathological, electron microscopic and immunocytochemical studies. Further studies ruled out the presence of multiple myeloma, extramedullary plasmacytoma of another site, or paraproteinaemia/paraproteinuria. During a relapse of the tumour 2 1/2 years after initial treatment, a new immunocytochemical study demonstrated that the tumour cells expressed monoclonal lambda IgG at the intracytoplasmic level, an unusual finding.

Cutaneous lesions in severe combined immunodeficiency: two case reports and a review of the literature.

Two patients with severe combined immunodeficiency (SCID) in whom cutaneous lesions were the first clinical feature were studied. Neither the morphology nor the histology of the lesions was uniform, although we have noted some common findings that can, in subsequent cases, lead us to suspect SCID. The immunologic defects were not uniform, representing the two poles of the spectrum of SCID. We believe that early recognition of the skin lesions is very important, since the patient's life expectancy can be increased by a bone marrow transplantation (1).