RESUMEN
BACKGROUND: Skin lesions on the feet and foot deformities impair daily activities and decrease quality of life. Although substantial foot deformities occur in many genodermatoses, few reports have been published on this topic. Therefore, we performed a retrospective chart review to identify patients with genodermatoses and foot disorders. We included 16 patients, who were investigated clinically and with molecular biology. RESULTS: The following genodermatoses with foot deformities were detected: autosomal recessive congenital ichthyosis (ARCI, n = 7); palmoplantar keratodermas (PPKs, n = 6); ichthyosis follicularis, atrichia, and photophobia (IFAP, n = 1); ectrodactyly-ectodermal dysplasia-clefting (EEC, n = 1); and ichthyosis with confetti (IWC, n = 1). Foot problems not only varied in severity depending on the disease but also showed phenotypic heterogeneity among patients with the same condition. Foot deformities were most pronounced in patients with EEC (split foot) or IWC (contractures) and less severe in those with ARCI (clawed toes), IFAP (hollow feet), or PPK (no bone abnormalities in the feet). CONCLUSION: Because a range of distinct genodermatoses involve foot abnormalities, early rehabilitation and other corrective measures should be provided to patients with foot involvement to improve gait and prevent/delay irreversible complications.
Asunto(s)
Ictiosis , Queratodermia Palmoplantar , Humanos , Ictiosis/genética , Fotofobia/congénito , Calidad de Vida , Estudios RetrospectivosRESUMEN
Ectrodactyly, Ectodermal dysplasia, and Cleft lip-cleft palate (EEC) syndrome is a rare ectodermal dysplasia presenting with various combinations of its three components. It is an autosomal dominant disorder with variable expression and penetrance. Patients have features of ectodermal abnormalities and a split hand/foot deformity of the limbs. We report a case of this rare disorder in a 40-year-old male who had ectrodactyly, ectodermal dysplasia, but no clefting of lips or palate.
Asunto(s)
Displasia Ectodérmica/diagnóstico , Deformidades Congénitas de la Mano/diagnóstico , Adulto , Labio Leporino/diagnóstico , Fisura del Paladar/diagnóstico , Opacidad de la Córnea/congénito , Opacidad de la Córnea/diagnóstico , Dedos/anomalías , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Humanos , Queratitis/congénito , Queratitis/diagnóstico , Obstrucción del Conducto Lagrimal/congénito , Obstrucción del Conducto Lagrimal/diagnóstico , Deformidades Congénitas de las Extremidades/diagnóstico , Masculino , Fotofobia/congénito , Fotofobia/diagnóstico , Síndrome , Resultado del Tratamiento , Triquiasis/congénito , Triquiasis/diagnósticoRESUMEN
The IFAP syndrome is characterized by the congenital onset of ichthyosis follicularis, absence of hair, and photophobia. A limited number of patients with the disorder have been described, and X-linked recessive inheritance has been proposed. Two unrelated female patients with a complete IFAP syndrome are reported. Both patients show a diffuse distribution of the disorder without linear arrangement. Because the suggested X-linked recessive pattern of inheritance is unlikely in these patients, a different way of transmission or, alternatively, genetic heterogeneity of the disorder has to be considered.