ABSTRACT
Epidermal nevi are hamartomatous lesions derived from the epidermis and/or adnexal structures of the skin; they have traditionally been classified according to their morphology. New variants have been described in recent years and advances in genetics have contributed to better characterization of these lesions and an improved understanding of their relationship with certain extracutaneous manifestations. In the first part of this review article, we will look at nevi derived specifically from the epidermis and associated syndromes.
Subject(s)
Epidermis/pathology , Keratinocytes/pathology , Nevus/classification , Skin Neoplasms/classification , Abnormalities, Multiple/classification , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Darier Disease/classification , Darier Disease/pathology , Genetic Association Studies , Genetic Diseases, X-Linked/classification , Genetic Diseases, X-Linked/genetics , Genetic Diseases, X-Linked/pathology , Humans , Ichthyosiform Erythroderma, Congenital/classification , Ichthyosiform Erythroderma, Congenital/genetics , Ichthyosiform Erythroderma, Congenital/pathology , Limb Deformities, Congenital/classification , Limb Deformities, Congenital/genetics , Limb Deformities, Congenital/pathology , Mosaicism , Mutation , Nevus/genetics , Nevus/pathology , Pemphigus, Benign Familial/classification , Pemphigus, Benign Familial/pathology , Proteus Syndrome/classification , Proteus Syndrome/genetics , Proteus Syndrome/pathology , Skin Neoplasms/genetics , Skin Neoplasms/pathology , SyndromeABSTRACT
Hailey-Hailey disease (HHD) is an autosomal dominant trait characterized by erythematous and oozing skin lesions preponderantly involving the body folds. In the present unusual case, however, unilateral segmental areas along the lines of Blaschko showing a rather severe involvement were superimposed on the ordinary symmetrical phenotype. Based on this observation and similar forms of mosaicism as reported in other autosomal dominant skin disorders, we postulated that in such cases, 2 different types of segmental involvement can be distinguished. Accordingly, the linear lesions as noted in the present case would exemplify type 2 segmental HHD. In the heterozygous embryo, loss of heterozygosity occurring at an early developmental stage would have given rise to pronounced linear lesions reflecting homozygosity or hemizygosity for the mutation. By analyzing DNA and RNA derived from blood and skin samples as well as keratinocytes of the index patient with various molecular techniques including RT-PCR, real-time PCR, and microsatellite analysis, we found a consistent loss of the paternal wild-type allele in more severely affected segmental skin regions, confirming this hypothesis for the first time, to our knowledge, at the molecular and cellular level.
Subject(s)
Alleles , Calcium-Transporting ATPases/genetics , Germ-Line Mutation , Pemphigus, Benign Familial/classification , Pemphigus, Benign Familial/genetics , Cells, Cultured , Chromosomes, Human, Pair 3 , DNA/blood , DNA/genetics , Female , Gene Dosage , Genes, Dominant , Genetic Markers , Haplotypes , Heteroduplex Analysis , Heterozygote , Humans , Keratinocytes/pathology , Loss of Heterozygosity , Microsatellite Repeats , Mosaicism , Pedigree , Pemphigus, Benign Familial/pathology , Polymorphism, Restriction Fragment Length , RNA/blood , RNA/genetics , Skin/chemistry , Skin/cytologyABSTRACT
El Pénfigo es una enfermedad crónica autoinmunitaria de evolución aguda, subaguda o crónica, caracterizada por ampollas intra epidérmicas en piel y mucosas. Es por ello que se realizó un estudio de todos los casos de Pénfigo en sus diferentes tipos en el Centro Nacional de Dermatología ôDr. Francisco José Gómez Urcuyoõ en el período Enero 1999- Diciembre 2003, que permitiera valorar el comportamiento clínico y epidemiológico del mismo. Se realizó un estudio descriptivo de corte transversal donde el universo estuvo compuesto por 79 pacientes que acudieron a la consulta externa al Centro Nacional de Dermatología en el período comprendido de Enero 1999-Diciembre 2003. Los principales hallazgos encontrados fueron: Se afectan personas mayores de 50 años, con manejo ambulatorio la mayoría, buena respuesta clínica con el primer tratamiento. Se les envió biopsia solamente al 50 porciento de los pacientes y esta reportó por orden descendente pénfigo seboneico, pénfigo vulgar como las principales. En cuanto al tratamiento se encontró una variedad de esquemas (más de 60 esquemas), encabezados por la prednisona. Las complicaciones fueron mínimas como gastritis y candidiasis. Las principales recomendaciones están basadas en mejorar el sistema de información del centro desde el expediente clínico y sobre todo establecer normas estandarizadas de tratamiento que permitan un buen manejo clínico para este tipo de pacientes...
