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1.
Pediatr Dermatol ; 20(6): 514-8, 2003.
Article in English | MEDLINE | ID: mdl-14651573

ABSTRACT

The coexistence of linear porokeratosis (LP) and disseminated superficial actinic porokeratosis (DSAP) in a 3-year-old girl with a family history of DSAP is presented. Happle proposed loss of heterozygosity (LOH) to explain the origin of this unusual phenomenon. Homozygosity would explain why lesions in LP are far more pronounced than those of the associated heterozygous DSAP lesions. LOH would also explain the early age of presentation of the linear lesions, the family history of DSAP, and why LP cases are particularly prone to malignant transformation. This case is also important for molecular studies because of the presence of heterozygous and homozygous mutated cells in the same patient and the familial occurrence of the heterozygous form of the disease.


Subject(s)
Genetic Predisposition to Disease , Loss of Heterozygosity , Porokeratosis/diagnosis , Child, Preschool , Diagnosis, Differential , Female , Humans , Porokeratosis/complications , Porokeratosis/genetics , Porokeratosis/pathology
2.
Dermatol. argent ; 8(4): 208-211, sept.-oct. 2002. ilus
Article in Spanish | BINACIS | ID: bin-2364

ABSTRACT

Se presentan cuatro casos de cutis verticis gyrata (CVG), dos son individuos adultos, con cuadros correspondientes a formas primarias de la enfermedad, y dos pediátricos, que por su etiología se clasifican entre las formas secundarias. Se comentan las consideraciones clínicas y de laboratorio, así como las posibles implicaciones etiológicas y de pronóstico de cada caso (AU)


Subject(s)
Humans , Male , Adult , Female , Child , Scalp , Skin Diseases , Scalp Dermatoses , Paraneoplastic Syndromes
3.
Dermatol. argent ; 8(4): 208-211, sept.-oct. 2002. ilus
Article in Spanish | LILACS | ID: lil-400916

ABSTRACT

Se presentan cuatro casos de cutis verticis gyrata (CVG), dos son individuos adultos, con cuadros correspondientes a formas primarias de la enfermedad, y dos pediátricos, que por su etiología se clasifican entre las formas secundarias. Se comentan las consideraciones clínicas y de laboratorio, así como las posibles implicaciones etiológicas y de pronóstico de cada caso


Subject(s)
Humans , Male , Adult , Female , Child , Scalp , Scalp Dermatoses , Skin Diseases , Paraneoplastic Syndromes
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