RESUMEN
Becker's nevus (BN) is a unilateral hyperpigmented, often hairy, cutaneous hamartoma, with geographic borders. It is usually localized on the shoulder, anterior chest, scapula, or upper arm, but there have been reports of BN in other areas (eg, lower extremities, face). In most cases, the lesion appears in late childhood or adolescence, and both congenital and familial cases have been described.
Asunto(s)
Mama/anomalías , Nevo Pigmentado/diagnóstico , Neoplasias Cutáneas/diagnóstico , Adolescente , Axila , Mama/cirugía , Femenino , Estudios de Seguimiento , Humanos , Mamoplastia/métodos , Nevo Pigmentado/genética , Nevo Pigmentado/cirugía , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/cirugía , SíndromeRESUMEN
Cutaneous larva migrans (CLM) is a dermatosis characterized by the presence of parasites which migrate into the skin, forming linear or serpiginous lesions. We report a child with cutaneous larva migrans of interest because of the involvement of an unusual site and the patient's age. We confirm the efficacy of therapy consisting of administration of albendazole by mouth.
Asunto(s)
Larva Migrans/patología , Canal Anal , Preescolar , HumanosRESUMEN
We report an 11-year-old girl with both piebaldism and neurofibromatosis type 1 (NF1). The patient had large depigmented patches on her lower limbs and a white forelock since birth. In addition, some café au lait spots were present on her trunk at birth and had increased in number and size during childhood in concomitance with the appearance of axillary and inguinal freckling. Neither neurofibromas nor Lisch nodules were detected and the patient was otherwise healthy. Pedigree analysis revealed inheritance for piebaldism on the paternal side. To our knowledge, the association of piebaldism and NF1 has been described previously in only three patients. Awareness of this rare association is relevant to ensure early diagnosis and adequate follow-up for NF1.
Asunto(s)
Neurofibromatosis 1/complicaciones , Piebaldismo/complicaciones , Niño , Femenino , Humanos , Neurofibromatosis 1/patología , Piebaldismo/genética , Piebaldismo/patología , Piel/patologíaRESUMEN
Mitochondrial DNA (mtDNA) polymorphisms were analyzed by polymerase chain reaction amplification and haplogroup-specific restriction screening in populations from Corsica and Sardinia. These included 56 individuals from the area of Corte, central Corsica (France), 51 individuals from Gallura, northern Sardinia (Italy), and 45 individuals from Barbagia, central Sardinia. The screening revealed that about 95% of mtDNAs could be grouped in 8 of the 9 European haplogroups, including H-K, T-V, and X. Our results confirmed that these haplogroups encompass virtually all the mitochondrial lineages present in Europe and can be detected in both northern and southern European populations. We also discovered 2 restriction sites (-73 Alw441 and +75 SphI) that allow the detection of informative nucleotide changes in the second hypervariable segment of the control region, which help to detect the haplogroup identity of mtDNAs without requiring further DNA sequencing. Haplogroup H was the most common mtDNA lineage in this sample, reaching frequencies from about 40% in Corsican and Gallurese populations, to about 65% in the Barbagian population. Haplogroup V, possibly originating in the Iberian peninsula, was found only in the central Sardinian sample. Of the 5 Corsican mtDNAs belonging to the haplogroup T, 4 had a restriction fragment length polymorphism found only in this population. It seems that this mutation originated in Corsica and has had time to spread in the area, since the maternal grandmothers of the subjects came from different villages of the island. The sample from central Sardinia shows a remarkable discontinuity with those from the northern part of the island and from Corsica. Gallura and Corsica seem to have undergone a more recent peopling event, possibly related to the arrival of new mitochondrial variability from continental Italy, while Barbagia has apparently maintained more archaic haplotypes.
Asunto(s)
ADN Mitocondrial/genética , Frecuencia de los Genes/genética , Variación Genética/genética , Haplotipos/genética , Polimorfismo de Longitud del Fragmento de Restricción , Regiones Determinantes de Complementariedad/genética , Emigración e Inmigración/estadística & datos numéricos , Femenino , Francia , Humanos , Masculino , Mutación/genética , Reacción en Cadena de la Polimerasa , Mapeo Restrictivo , SiciliaRESUMEN
The purpose of this paper is to describe the clinical features of lupoid leishmaniasis in a child and to underline the use of PRC as a necessary and reliable tool in controversial diagnosis. Lupoid leishmaniasis, also known as chronic or relapsing leishmaniasis, is mainly widespread in the Middle East, where it represents up to 5% of all cutaneous Leishmaniasis. It strongly resembles Lupus Vulgaris, both clinically and histologically, and is therefore not usually diagnosed immediately but after a certain period of time. The amastigotic forms are rare or absent. The cutaneous nodules or plaques can slowly enlarge over the years. The case of an eleven-year-old albanian child living in Durazzo (Albania), suffering since three years with a plaque formed by apple-jelly nodules and scars on his right cheek, is presented. Using PCR, the presence of Leishmania infantum DNA led to a diagnosis of lupoid leishmaniasis. The therapeutic strategy of a combination of oral itraconazole and infiltration of metilglucamina antimoniate has been carried out, with good result, as checked through "telemedicine".