Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease.
J Dtsch Dermatol Ges
; 12(9): 781-8, 2014 Sep.
Article
en En
| MEDLINE
| ID: mdl-25176457
ABSTRACT
Palmoplantar keratodermas (PPK) comprise a heterogeneous group of keratinization disorders with hyperkeratotic thickening of palms and soles. Sporadic or acquired forms of PPKs and genetic or hereditary forms exist. Differentiation between acquired and hereditary forms is essential for adequate treatment and patient counseling. Acquired forms of PPK have many causes. A plethora of mutations in many genes can cause hereditary PPK. In recent years several new causative genes have been identified. Individual PPK may be quite heterogeneous with respect to presentation and associated symptoms. Since the various hereditary PPK - like many other monogenic diseases - exhibit a very low prevalence, making of the correct diagnosis is challenging and often requires a molecular genetic analysis. Knowledge about the large but quite heterogeneous group of hereditary PPK is also important to dissect the molecular mechanisms of epidermal differentiation on palms and soles, ultimately leading to targeted corrective therapies in the future.
Texto completo:
1
Colección:
01-internacional
Asunto principal:
Pruebas Genéticas
/
Queratodermia Palmoplantar
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Predisposición Genética a la Enfermedad
/
Técnicas de Diagnóstico Molecular
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Humans
Idioma:
En
Revista:
J Dtsch Dermatol Ges
Asunto de la revista:
DERMATOLOGIA
Año:
2014
Tipo del documento:
Article
País de afiliación:
Alemania