Ichthyoses in everyday practice: management of a rare group of diseases

Abstract

Summary Ichthyoses comprise a heterogeneous group of hereditary disorders of keratinization characterized by a highly varied clinical picture. A distinction is made between common hereditary ichthyoses (ichthyosis vulgaris and X‐linked ichthyosis), which usually manifest themselves in the first year of life, and rare, sometimes severe congenital ichthyoses. Patients with very mild symptoms often do not even realize they have ichthyosis. The diagnosis is usually based on clinical evaluation. Molecular genetic testing as well as histological and electron microscopic studies may aid in confirming the diagnosis. Mapping a family tree is also diagnostically useful. Besides skin manifestations, important aspects of the clinical examination and history include disease onset, presence of a collodion membrane at birth as well as the presence of hair anomalies and extracutaneous signs and symptoms. Rigorous hydration of the skin (several times a day) and balneotherapy are the mainstay of ichthyosis treatment. For patients with severe disease, systemic acitretin treatment should be considered on a case‐by‐case basis. While ichthyoses are generally limited to the skin, there are syndromic forms that may affect other organs and that require interdisciplinarity cooperation. Although ichthyoses remain incurable, they can be managed well with symptomatic treatment. However, such treatment is frequently time consuming and expensive. In the future, novel therapeutic approaches might include enzyme replacement and gene therapies as well as antiinflammatory drugs.

Ichthyoses—A Clinical and Pathological Spectrum from Heterogeneous Cornification Disorders to Inflammation

“…Some hereditary ichthyoses have a histologic pattern that closely resembles psoriasis vulgaris or chronic dermatitis in the setting of atopic eczema, which is why misdiagnosis is common (Table 2). Because of the significant and sometimes lethal complications associated with this group of ichthyoses, prompt dermatohistologic diagnosis is important [20].…”

“…There is a mutation of corneodesmosin, an important adhesion protein expressed in the extracellular sections of desmosomes in the stratum corneum of the epidermis, as well as at the inner hair root sheath of hair follicles (Table 3). Ultrastructurally, there is detachment of intact corneocytes from the stratum granulosum (extracellular cleft formation) [20,23]. Autosomal dominant mutations in other domains of corneodesmosin cause hypotrichosis simplex.…”

Reporte de casos de ictiosis laminar en honduras; desafío diagnóstico.

“…En el pedigrí como parte del estudio genético, se aprecia que toda la estirpe parte de tres familiares en primer grado, IND #1, 3, 5 de la I GN, posteriormente cada uno tiene su propia descendencia. Hay que tomar en consideración que todas las personas son originarias de la misma comunidad donde existe endogamia, factor que predispone a confirmar el patrón de herencia autosómico recesivo 12,14,15,26 .…”

“…Con mayor frecuencia la IL y eritroderma ictiosiforme congénita bullosa/no bullosa (EICB/NB), con la modalidad de herencia previamente descrita, son evidentes en el nacimiento, motivo por el cual se les denomina ictiosis verdaderas 13,16,17 . Ambas se caracterizan por presentarse como 'Bebé Colodión' en el momento del parto, caracterizado por poseer una membrana traslucida que recubre la totalidad de la piel, dando un aspecto brillante, presentando algunas complicaciones como limitación de la movilidad, eclabión y ectropión 5,12,13,16,18,26 . Condición que presentaron todos los pacientes descritos al nacer.…”

“…En esta serie de casos no fue posible realizar estudios histológicos debido al difícil acceso a los servicios de salud donde se realizan exámenes complejos como estos. Sin embargo, a pesar de que los estudios histológicos han sido útiles para el diagnóstico, su aplicación no siempre permite diferenciar los tipos de ictiosis, razón por la que es recomendable siempre establecer el patrón de herencia para ratificar el tipo sospechado 25,26 .…”