What's new with common genetic skin disorders?
Minerva Pediatr
; 69(4): 288-297, 2017 Aug.
Article
en En
| MEDLINE
| ID: mdl-28425690
ABSTRACT
Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in knowledge concerning the pathophysiology, diagnosis, and treatment of these skin features. Specifically, clinical diagnostic criteria for incontinentia pigmenti, ichthyosis, and tuberous sclerosis have been updated. Additionally, there have been considerable advancements in the technology used in the molecular diagnoses of these conditions. In the case of TSC, the discovery that a portion of TSC mutations are missed due to mosaicism is driving the development of new diagnostic methods. Also, scientists are also seeking minimally invasive methods of genetic diagnosis, as in the case of using hair follicles to diagnose autosomal recessive congenital ichythosis (ARCI). Finally, there are innovative targeted medical therapies being developed that serve as promising tools in the care of patients afflicted with conditions including ichthyosis and EB.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Enfermedades Cutáneas Genéticas
/
Técnicas de Diagnóstico Molecular
/
Terapia Molecular Dirigida
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Animals
/
Humans
Idioma:
En
Revista:
Minerva Pediatr
Año:
2017
Tipo del documento:
Article
País de afiliación:
Estados Unidos