RESUMO
We describe a 29-year-old woman with congenital melanonychia striata and compound nevus of the right first digit. There was extension of the hyperpigmentation onto the proximal nail fold, even beyond the borders established by the band of melanonychia striata. A dermal plaque with irregular borders and variegated pigmentation was also present over the distal digit extending from the pigmented region of the hyponychium. A limited number of biopsy proven congenital subungual melanocytic nevi have been reported in the literature. Interestingly, we found that the majority of these cases present with longitudinal melanonychia in association with periungual hyperpigmentation, constituting a pseudo-Hutchinson sign. Currently studies evaluating the diagnostic test characteristics of Hutchinson sign are lacking. While Hutchinson sign is traditionally considered a worrisome feature it is certainly not pathognomonic and a malignant cause should not be assumed without thorough assessment.
Assuntos
Mãos/patologia , Doenças da Unha/diagnóstico , Unhas Malformadas/congênito , Nevo Pigmentado/diagnóstico , Neoplasias Cutâneas/diagnóstico , Acne Vulgar/complicações , Adulto , Biópsia , Derme/patologia , Diagnóstico Diferencial , Feminino , Humanos , Achados Incidentais , Melanócitos/patologia , Melanoma/diagnóstico , Doenças da Unha/congênito , Doenças da Unha/patologia , Unhas Malformadas/embriologia , Unhas Malformadas/patologia , Crista Neural/embriologia , Nevo Pigmentado/congênito , Nevo Pigmentado/patologia , Neoplasias Cutâneas/congênito , Neoplasias Cutâneas/patologiaRESUMO
Witkop syndrome, also known as tooth and nail syndrome (TNS), is a rare autosomal dominant disorder. Affected individuals have nail dysplasia and several congenitally missing teeth. To identify the gene responsible for TNS, we used candidate-gene linkage analysis in a three-generation family affected by the disorder. We found linkage between TNS and polymorphic markers surrounding the MSX1 locus. Direct sequencing and restriction-enzyme analysis revealed that a heterozygous stop mutation in the homeodomain of MSX1 cosegregated with the phenotype. In addition, histological analysis of Msx1-knockout mice, combined with a finding of Msx1 expression in mesenchyme of developing nail beds, revealed that not only was tooth development disrupted in these mice, but nail development was affected as well. Nail plates in Msx1-null mice were defective and were thinner than those of their wild-type littermates. The resemblance between the tooth and nail phenotype in the human family and that of Msx1-knockout mice strongly supports the conclusions that a nonsense mutation in MSX1 causes TNS and that Msx1 is critical for both tooth and nail development.