Hereditary gelsolin amyloidosis : skin and cranial nerve involvement, grading, and plastic surgical treatment

Tutkimustuotos: OpinnäyteVäitöskirjaArtikkelikokoelma

Abstrakti

Hereditary gelsolin amyloidosis (HGA), also known as Meretoja disease, is a dominantly inherited deposition disease that belongs to the Finnish disease heritage. The main symptoms and signs are progressive facial paresis, looseness of skin and lattice corneal dystrophy type 2. Patients with HGA have multiple functional and cosmetic problems, resulting in psychosocial distress. The most important daily problems are caused by the descent of forehead, brow and upper eyelids into the field of vision, ectropion of lower eyelid, dryness of eyes and mouth, and weakness of mouth area, which disturbs speaking and eating. The purpose of this study was to investigate the indications, methods, results and complications of plastic surgical treatment in patients with HGA operated on in Töölö Hospital during the years 1984 to 2004, and to investigate the involvement of cranial nerves and skin, plastic surgical treatment, and the structure of skin and subcutaneous tissue in patients with HGA operated on in Töölö Hospital during the years 2004 to 2010. There were 35 and 29 patients in the retrospective and prospective series, respectively. This is the most comprehensive study concerning the symptoms and treatment of patients with HGA. The study showed that the extent of cranial nerve involvement in patients with HGA is wider than previously known, and is progressive with advancing age and disease severity. The study verified the earlier findings of slowly progressive facial nerve paresis, always spreading bilaterally from cranial to caudal facial nerve branches with time. Based on these findings and the clinical neurophysiology studies, we designed a grading system for facial paresis in HGA. The study also showed that there is a progressive accumulation of amyloid material in the skin of patients with HGA along with structural skin changes. The skin becomes thin, stretches more, and forms folds that are loosened from the underlying structures. In surgery, an abnormal fragility was noted as a sign of damage to skin and subcutis. Based on all these findings, we designed the HGA scoring system to estimate the severity of neurocutaneous involvement. The study showed that patients with HGA need repeated surgery with disease progression. Although the amount of surgical complications is increased and the problems these patients have are not always completely resolved, most of them are satisfied with surgical treatment. There is a progressive facial paresis and a progressive cranial neuropathy in HGA. The structure of skin changes with advancing disease, and this is responsible for progressive cutaneous symptoms. These aspects must be taken into account when planning surgical treatment. It is important that the surgeon understands the special characteristics of HGA, and the special features of surgical treatment, such as tissue fragility and increased postoperative complications. The treatment of HGA with plastic surgery is a process, which over the years comprises different procedures that address the current concern.
Alkuperäiskielienglanti
JulkaisupaikkaHelsinki
Kustantaja
Painoksen ISBN978-951-51-3049-5
Sähköinen ISBN978-951-51-3050-1
TilaJulkaistu - 2017
OKM-julkaisutyyppiG5 Tohtorinväitöskirja (artikkeli)

Lisätietoja

M1 - 175 s.

Tieteenalat

  • Aging, Premature
  • +etiology
  • Amyloid Neuropathies, Familial
  • +complications
  • +physiopathology
  • Amyloidosis, Familial
  • +genetics
  • Corneal Dystrophies, Hereditary
  • Cranial Nerve Diseases
  • Disease Progression
  • Facial Nerve Diseases
  • Facial Paralysis
  • +surgery
  • Gelsolin
  • Neural Conduction
  • Severity of Illness Index
  • Skin
  • +pathology
  • 3126 Kirurgia, anestesiologia, tehohoito, radiologia

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