Recurrent skin ulcer cross-repair and sensory reconstruction in a WRN gene mutational patient

Abstract

A 37-year-old man complained of a refractory posterior malleolar ulceration on his left ankle. He was diagnosed with Werner syndrome according to the progeroid clinical features and genetic testing. To approach the ulceration, a free flow-through right anterolateral thigh perforator flap with anterolateral thigh cutaneous nerve was harvested. One year later, he was readmitted due to a new ulceration on his right ankle. We harvested the left anterolateral thigh perforator flap with anterolateral thigh cutaneous nerve to reconstruct the defect. After one more year of follow-up, there was no recurrence of ulcers, and the sensation of the flap recovered partially after 6 months. We conclude that free flow-through anterolateral thigh perforator flap is a feasible choice for the repair of foot ulcers in Werner syndrome.

Severe metabolic disorders coexisting with Werner syndrome: a case report

“…[15]. We used "Werner syndrome" and "WRN mutation", "Werner syndrome" and "LMNA mutation", "Werner syndrome" or "progeria" to search in English database (Pubmed), and Chinese database (China National Knowledge Infrastructure (CNKI) up to 15th August 2020, and found 16 Chinese patients with WS reported [18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33]. Demographic (i.e., age, sex) and clinical characteristics of individual patients were summarized in Table 2. WS was accurately diagnosed in the patient through the collection of a detailed medical history, a careful physical examination, and obtaining extensive laboratory test results.…”

Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review

“…Administration of a specific adipokine, such as leptin, and transplantation of subcutaneous fat may induce sustained improvements in hyperglycemia, dyslipidemia, and hepatic steatosis caused by lipodystrophies [24]. It is alternative to use surgery for refractory ulcers of WS [25] and cataract [16], anti-aging treatment such as vitamin C [26], rapamycin [17] or combined with farnesyltransferase inhibitor [27], pluripotent stem cell [28,29]. Annual screening for tumor and cataracts is important for early detection of the complications, especially in patients with CWS.…”

Investigator‐initiated clinical study of a functional peptide, SR‐0379, for limb ulcers of patients with Werner syndrome as a pilot study

“…Werner syndrome is a very rare autosomal recessive disorder caused by the WRN gene, which encodes a RecQ DNA helicase. Patients with Werner syndrome have several major complications, including juvenile bilateral cataracts, diabetes, dyslipidemia, atherosclerosis, malignancy and refractory leg ulcers . Among them, the incidence of severe leg ulcers markedly reduces patient activity and quality of life.…”

“…Among them, the incidence of severe leg ulcers markedly reduces patient activity and quality of life. Severe leg ulcers are usually associated with diabetes or ischemia; however, Werner syndrome is also characterized by delayed wound healing, which involves thin connective tissues, physiological overpressure by bone transformation and delayed skin fibroblast cell growth . Thus, it is imperative to prevent infections in leg ulcers associated with Werner syndrome during the long treatment period.…”

“…Patients with Werner syndrome have several major complications, including juvenile bilateral cataracts, diabetes, dyslipidemia, atherosclerosis, malignancy and refractory leg ulcers. [3][4][5][6] Among them, the incidence of severe leg ulcers markedly reduces patient activity and quality of life. Severe leg ulcers are usually associated with diabetes or ischemia; however, Werner syndrome is also characterized by delayed wound healing, which involves thin connective tissues, physiological overpressure by bone transformation and delayed skin fibroblast cell growth.…”